単一遺伝子/NGSパネル検査用（PDF）

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単一遺伝子/NGSパネル検査用（PDF）

Limited to Japan Only
Genetic Diagnostics　(英字でご記入ください)
› A. Analysis Requested
1. Test(s)/Gene(s)
1.1
Full Gene Sequencing
1.5
Hotspot Testing
2. Specific Request:
1.2
NGS Panel Testing
1.6
Carrier Testing
1.3
Deletion / Duplication Analysis
1.7
Somatic Mutation Analysis
1.4
Repeat Expansion Analysis
› B. Patient Name (Label)
1.
Patient - ID
2.
Date of Birth
3.
Sex
4.1
› C. Sender
(dd/mm/yyyy)
Male
4.2
Female
4. Country
5. Sample
Date(dd/mm/yyyy)
›　Patient - IDには、匿名化符号をご記入ください。
› 匿名化符号は、英数字12字以内にしてください。
2.1
Prenatal Diagnosis
(サンプル送付の前に、私達にお知らせください)
2.2
CentoArrayCyto™
2.3
CentoArrayOnco™
(Reporting Address)
1.
Name of Physician
2.
Clinic
3.
Department
4.
Street
5.
Zip Code / Town
6.
Country
7.
Telephone
9.
E-Mail
8. Fax
› E. Billing
› D. Second Reporting Address (if applicable)
1.
CENTOGENE Quotation No.
2.
Invoice to
the Following Address
Filgen, Inc
1.
Name of Physician
2.
Clinic
3.
Name
3.
Department
4.
DepartmentBioscience
4.
Street
5.
Street
5.
Zip Code / Town
6.
ZIP Code / Town 459-8011/ Aichi-pref.
6.
Country
7.
CountryJapan
7.
Telephone
8.
Telephone
9.
E-Mail
8. Fax
10. E-Mail
› F. For Somatic Mutation Analysis Only
1. Year of Tissue Fixation
+81-52-624-4388
9.
Fax +81-52-624-4389
[email protected]
I authorize the physician to request this analysis/these analyses and I am informed
about the costs. I herewith undertake to be liable for the payment of any invoice
related to this diagnostics and I declare that the address given above is the correct
billing address.
2. Tumor Grading Stage
Place, Date
3. Tissue of Origin
Signature
› 私
はここに、上記の情報が正しいことを承認いたします。
場所、
日付
医師のご署名
› サンプル条件
1409, Jyonoyama 1-Chome, Midoriku, Nagoya
✘
✘
具体的なサンプル条件については、89ページおよび90ページをご参照ください。
› 本依頼には、Terms & Conditions of Centogene AGが適用されます。
これは、www.centogene.comから取得できます。
› 私達は、
次のページが必須です：1-8
› CENTOGENEは、
複数の国際的な品質保証(ISO, CAP, CLIA)の認定を受けています。
› 臨床情報や追加情報の記載には、
8ページをご使用ください
› 提供される全ての検査結果には、
CentoMD®が利用されています
V66.1_April2016
CLIA #99D2049715
1
› 遺伝子解析の実施に対する同意書
遺伝子解析の実施にあたり、被検者が同意書に署名したことを確認することは必須となっています。
これは、以下のいずれかによってなされます：
Part (I): 被検者の署名による同意　および/または
Part (II): 被検者の署名済み同意書を保管していることを宣言する、医師の署名による確証
CENTOGENEが遺伝子解析を合法的に実施するには、Part(I)またはPart(II)が必要です。該当する同意書が、試料に添付されていることをご確認くだ
さい。
被検者の医師は、以下の診断/症状を明らかにするために、被検者(または被検者の親権を有する者、および保護している者)に遺伝子解析の実施
を勧めています：
(医師記入欄)
私達は、
これらの解析の目的、遺伝学的検査により何が起こるか、および被検者と被検者のご家族における結果の重要性について、説明します。　遺伝学的検査のより具体的な情報については、依頼書をご参照ください。
遺伝学的検査の目的は、被検者の遺伝学的試料(DNA)を、分子遺伝学的手法によって調査することです。
この手法は、変化(変異と称されます)に　基づき、被検者またはそのご家族において発病している、
または疑われている疾患を発見する特性を有しています。
• 特
定の疑いに関する個々の遺伝学的特性が調査されます。
または、
• 多
くの遺伝学的特性が、包括的手法(例えば、
エクソームまたはゲノムシークエンシングの使用など)によって一度に調査されます。
被検者の遺伝学的検査で使用される検査試料は、依頼書に記載されており、血液が一般的です。
結果の重要性：ある疾患において特徴的な結果が示された場合、
この結果は通常、非常に決定的なものです。疾患の原因となる変異が認められな
くても、疾患の原因となる遺伝学的変化は依然として存在している可能性があります。
このため、ある遺伝性疾患を、
またはある疾患に罹患しやす
い傾向を完全に排除することはできません。
時として、遺伝子変異が証明されても、それらの重要性が明確でない場合があります。
これは結果に記載され、被検者と話合われることになります。
遺伝学的理由から、疾患の原因の全てを包括的に説明することは出来ません。遺伝子解析によって、被検者自身およびその血縁者(特に被検者の
子供)の全ての疾患リスクを取り除く事は不可能です。
結果を知ることによって、精神的ストレスが引き起こされる場合があります。被検者の近医と、遺伝学的報告書の詳細について、話合われることが
常に推奨されています。
偶発的所見：原則的に、全ての検査技術において、実際の問題とは直接関係しないが、被検者およびそのご家族にとって、医学的に重要となり得る
結果が取得されることがあります(いわゆる偶発的所見)。特にゲノムシークエンシングのような包括的手法において、潜在的に深刻で、避けること
のできない、
または治療不可能な疾患の高いリスク(被検者の自覚していない)に関係する偶発的結果が取得される可能性があります。かかる偶発
的所見の告知を希望するか、
どのような状況下において告知を希望するか、被検者は同意の一部として決定することができます。
家族調査結果：複数の家族構成員が検査された場合、結果が正しく解釈されるには、前提とされている血縁関係が正しいものでなければなりませ
ん。遺伝学的検査によって、前提とされている血縁関係に疑いが生じた場合でも、私達は告知しません。例外として、要求されている検査を完了す
るために絶対的に必要な場合、告知します。
試料/結果の利用：試料および検査結果は、解析のために、および以降で述べられる被検者の同意の宣言に従って、使用されます。検査結果は、可
能であれば、被検者の医師による治療策定にも利用されます。
取り消しの権利：被検者は、理由を述べることなく、将来のためにいつでも、解析/検査に対する同意の一部または全体を取り消すことが可能です。
知らされない権利：被検者は、検査結果について知らされない権利(知らされない権利)、結果が提供されるまでの間であればいつでも開始された
検査工程を停止する権利、
まだ知らされていない検査/試験結果の破壊を要求する権利を、有しています。
2
V66.1_April2016
記入必須
記入必須
遺伝学的検査において - 症例に依存して -
本同意の宣言に署名することによって、私は以下を了承します
• 私
は、前述に記載されている遺伝子解析の説明および依頼書に記載されているさらなる説明を受取り、読み、
そして理解しました
• 私
は、
以下に記載される疾患および事項に関する適切な説明を、担当医師から受けました：
(医師記入欄)
計画された遺伝学的検査の遺伝学的基礎、目的、範囲、種類および重要性、計画された検査による達成可能な結果、私の疾患/健
康障害において解析される遺伝学的特性の重要性、疾患または健康障害の予防/治療の可能性、および(1)遺伝学的検査に必要な
試料作成、(2)遺伝学的検査の結果の情報に関連するリスクの可能性。全ての私の質問は回答され、十分に考える時間が与えられ
ました。
本宣言の末尾における私の署名を以って、私は、(1)依頼書および前述に記載されている遺伝子解析の説明において詳細に述べら
れている上記のための、Centogene AG(CENTOGENE)による遺伝子解析、(2)当該解析の実施において必要となる私の個人データ(こ
れには私の健康状態も含まれます)の、CENTOGENEによる、収集、加工および使用、(3)私の担当医師により指定された必要となる
試料の作成、(4)結果を確証/確認するために必要な限り試料を保存すること、(5)もし可能な場合、私の家族構成員の個人情報を、
これら構成員が同意した場合、私の記録に追加し、上記目的のために利用すること、(6)私または私の担当医師、あるいは私の担当
医師の代理となる施設によりCENTOGENEが指示された場合はその施設に、遺伝子解析の結果について通知すること、そして(7)私
の個別の要求によって、私や私の担当医師、場合によっては、指示している施設に、遺伝子解析の生データを提供することに、同意
します。私はまた、CENTOGENEのシステムおよびデータベース、
ソフトウェアを管理および維持するサービスプロバイダーに対す
る医師またはヘルスケア専門家としての秘密保持義務から、CENTOGENEおよびその従業員を、免除します。
私は、理由を述べることなく、将来のためにいつでも私の同意の一部または全体を取り消すことが可能であり、
また私は、前述に記
載されている説明の通り、知らされない権利を有していることを了承しています。
記入必須
記入必須
Part (I): 同意の宣言 (注意深くお読みください)
以下の関連するボックスにチェックを入れることで、私は以下の行為に同意します：
データおよび結果、試料のさらなる保管と利用
CENTOGENEは、依頼書に記載されたおよび/またはあなたの担当医師から提供された個人データ(例えば、氏名、生年月日、住所、
疾患の種類および症状など)、あなたの家族構成員の同意が得られた場合における彼らの個人データ(例えば、氏名や疾患の症状
など)、および遺伝子解析および試験の結果と残った試料(元の試料および加工された試料を含みます；
「残った試料」
と総称しま
す)を保管します。
これらの結果およびあなたの残った試料の保有は、上記に示された疾患について、あなたおよびあなたの家族
構成員への助言/検査、結果の確証/確認、要望、品質評価、結果に関連する最新の科学的知見の追跡、遺伝性疾患の診断および治
療の向上、遺伝性疾患と疾患をもたらす可能性のある生物学的メカニズムの分野における内部的および外部的研究にとって、有
用となる可能性があります。
上述の私のデータ、解析、検査結果および私の残った試料が最低20年間、上記を目的としてCENTOGENEによって保管・利用され
ることに、私は同意します。
私は、CENTOGENEに対する私の同意をいつでも取り消しても良いこと、検査結果および試料が私の健康状態の情報を含みうるこ
とを了承しています。
Part (I), 1 of 2 pages
V66.1_April2016
3
偶発的所見
全エクソームシークエンシングおよび全ゲノムシークエンシングの検査では、多数の異なる遺伝子を解析するため、全エクソー
ムシークエンシング/全ゲノムシークエンシングを依頼する理由とは必ずしも関連しない偶発的所見が認められる可能性があり
ます。
これらの所見は、あなたの報告された臨床的特徴に関与せずまた無関係な情報を与えますが、患者ケアにとって医学的価
値を有する可能性があります。
CENTOGENEは、通常、
「ACMG Recommendations for Reporting of Incidental Findings」に従って、遺伝子中の、
クラスまたはタイプ
の指定された変異を報告します。
しかしながら、CENTOGENEは、独自の裁量で、他の症例における(他の)偶発的所見を報告する
場合や、前記のrecommendationsにより推奨されているにもかかわらず、偶発的所見の報告を差し控える場合があります。
私の担当医師が依頼した特定の理由とは必ずしも関連しないような偶発的所見も受け取ることを、私は選択します。
診断の促進および向上、研究を目的とした試料およびデータの使用
CENTOGENEが、(1)上述の通りに、
またそこに記載された目的のために、私の健康状態を含みうる私の検査結果と残った試料を
保管・使用すること、
これと同様に(2)私の健康状態に関するデータを含みうる私の検査結果を、匿名化または変名化した形式で
データベースに保管し、
また上述のことを目的として、上記の通りに使用することに、私は同意します。私は、CENTOGENEのデータ
ベース中の匿名化された私の検査結果が、私の要求によっても破壊することができないことを了承しています。
場所、
日付被検者名/保護者名
✘
被検者/保護者のご署名
Part (I), 2 of 2 pages
4
V66.1_April2016
記入必須
記入必須
あなたの検査結果および残った試料は、遺伝性疾患の診断および治療の向上、そして研究の促進に役立つ可能性がありま
す。CENTOGENEは、例として、結果および残った試料を研究目的(例えば、バイオマーカーの検出および開発など)、
また他の罹患
者における疾患と遺伝学的変化の診断の促進および向上のために、使用する場合があります。
またCENTOGENEは、匿名化また
は変名化された膨大な遺伝学的検査結果を保存したデータベースを運営しています。CENTOGENEは、他の罹患者における遺伝
学的変化の診断の促進および向上と同様に、研究を目的として、外部の医師、科学者、研究者および(製薬)企業に、
このデータベ
ースへのアクセスを提供する場合があります。
このデータベースに含まれている検査結果は、医師、科学者、研究者および企業に
対して匿名化されています。
被検者名：
生年月日：
被検者 - ID：
(最低2つの情報を提供してください、例えば被検者名と生年月日など)
検査対象：
CENTOGENE AGはドイツ法の対象となり、遺伝子解析の実施に対する被検者の署名による明確な同意が必要です。
以下の署名者が勤務する機関の特定の状況下において、被検者は現地語の現地の要件に従って、個人の同意を宣言します。
私達/私は、
これにより、以下の要求が、被検者または(場合によっては)その法的代理人によって宣言された同意に一致すること
を確証します：
• 被
検者は、特定の症例について、計画された遺伝学的検査の目的、範囲、種類および重要性、計画された検査により達成可能
な結果、解析される彼/彼女の疾患/健康障害の遺伝学的特性、疾患または健康障害の予防/治療の可能性、試料および検査結
果の利用計画および(1)遺伝学的検査に必要となる試料の作成および(2)遺伝学的検査の結果の情報に関するリスクについて、
十分に伝えられています。
• 被
検者は、検査が依頼書に示された全ての疾患を扱うことを知らされており、私達/私は、検査結果が適切な方法で被検者に解
釈されること、および被検者はカウンセリングなくして結果を受け取ることがないことを、保証します。
• 被
検者は、彼/彼女が(1)彼/彼女の同意を、将来のために、いつでも取り消す権利を有していること、(2)検査結果について知らさ
れない権利(知らされない権利)を有していること、(3)結果が提供されるまでの間ならいつでも開始された検査工程を停止する
権利を有していること、および(4)彼/彼女にまだ知られていない検査/試験結果の破壊を要求する権利を有していることを、知ら
されています。
記入必須
記入必須
Part (II): 医師による被検者の同意確認
私達/私は、被検者が本同意を合法的に与える能力を有していること、被検者の全ての質問が回答されたこと、被検者に十分な
考える時間が与えられたこと、知らされない権利を行使しなかったこと、を確認しています。
私達/私は、被検者が(1)解析の実施に必要となる彼/彼女の個人(健康状態)データがCENTOGENEによって収集、加工そして使用
されること、(2)試料の作成、(3)結果の確証/確認のために必要な限り資料が保管されること、(4)家族構成員の同意が得られた場
合、彼らの個人データを彼/彼女の記録に追加、および上記の目的のために利用すること、(5)彼/彼女または私、あるいは私の代
理となる施設によってCENTOGENEが指示された場合はその施設に、遺伝学的検査の結果について知らせること、および(6)彼/彼
女の個別の要求によって、彼/彼女や私、場合によっては、指示している施設に、遺伝子解析の生データを提供することに対して、
同意していることを確認しています。
私達/私は、被検者がCENTOGENEのデータベースおよびソフトウェアを管理・維持しているサービスプロバイダーに関して、医師
およびヘルスケア専門家としての秘密保持の義務から、CENTOGENEおよびその従業員を免除したことを、確認しています。
• さらに、私達/私は以下の事を確認しています(該当しない部分は削除してください)：
• 被
検者は、CENTOGENEが(1)依頼書に記載されたおよび/または私/私達によって提供された個人データ、また彼/彼女の家族
構成員が同意した場合、彼らの個人データ、遺伝子解析の結果および残った試料を最低20年間、同意書に明記された疾患に
Part (II), 1 of 2 pages
V66.1_April2016
5
ついて、彼/彼女の家族構成員への助言/検査、結果の確証/確認、要望、品質評価、結果に関連する最新の科学的知見の追跡、遺
伝性疾患の診断および治療の向上および疾患をもたらす可能性のある生物学的メカニズムと遺伝性疾患の分野における外部
的および内部的研究を目的として保管すること、および(2)彼/彼女の個人データ、遺伝子解析の結果および残った試料を、彼/彼
女の今後の試験のために保管することに、合意しています；
• 被検者は、実際の問題とは直接関係しないような所見といった、偶発的所見について知らされることを希望しています；
• 被
検者は、CENTOGENEが(1)彼/彼女の健康状態に関するデータを含みうる残った試料および検査結果を、研究目的(例えば、バイオマ
ーカーの検出および開発など)や、他の罹患者における遺伝学的変化および疾患の診断の促進と向上のために、保管して使用するこ
と、(2)彼/彼女の健康状態に関するデータを含みうる彼/彼女の検査結果を、匿名化または変名化された形式で、他の検査結果と共に、
データベースに保管および使用し、研究や他の罹患者における遺伝学的変化および疾患の診断の促進と向上を目的として、医師、科
学者、研究者および(製薬)企業に、
このデータベースへのアクセスを与えることに、合意しています。データベースに含まれる検査結果
は、医師、科学者、研究者および企業に対して、匿名です。また私達/私は、被検者が匿名化された検査結果が彼/彼女の要求によっても
破壊できないことを知らされていることを、確認しています。
私達/私は、私達/私が上述の全ての事項に対する被検者の署名を保管していること、被検者は彼/彼女にまだ知らされていない場合に
いつでも彼らの結果を削除するよう私達に要求できることを、私達/私は承知していること、そして私達/私はこうした要求をCENTOGENE
に伝達しなくてはならないことを、確認しています。
記入必須
記入必須
私達/私は、私達/私が被検者の署名済み同意書を無期限に保有すること、私達はCENTOGENEへの最初の依頼に際し、本書を提供するこ
とを確認しています。
場所、
日付
医師名
✘
医師のご署名
›ご
連絡先
CENTOGENE日本総代理店
フィルジェン株式会社
バイオサイエンス部
Tel.: 052-624-4388
Fax: 052-624-4389
[email protected]
www.filgen.jp
記入済み依頼書と共に、試料を以下の宛先にお送りください：
〒459-8011
愛知県名古屋市緑区定納山一丁目1409番地
フィルジェン株式会社　遺伝子診断研究支援サービス
Part (II), 2 of 2 pages
6
V66.1_April2016
› T able of Contents
› Clinical Information Request
› Metabolic Diseases
9 - 18
› Neurological Diseases
19 - 38
› Ophthalmological Diseases
39 - 44
› Ear, Nose and Throat Diseases
45 - 47
› Bone, Skin and Immune Diseases
48 - 56
› Cardiological Diseases
57 - 60
› Vascular Diseases
61 - 62
› Liver, Kidney and Endocrinological Diseases
63 - 68
› Reproductive Genetics
69
› Tumoral and Haematological Diseases
70 - 73
› Malformation and/or Retardation Syndromes
74 - 82
› Oncogeneticsche Störungen
83 - 87
›ご
連絡先
CENTOGENE日本総代理店
フィルジェン株式会社
バイオサイエンス部
Tel.: 052-624-4388
Fax: 052-624-4389
[email protected]
www.filgen.jp
V66.1_April2016
記入済み依頼書と共に、試料を以下の宛先に
お送りください：
〒459-8011
愛知県名古屋市緑区定納山一丁目1409番地
フィルジェン株式会社　遺伝子診断研究支援サービス
7
Clinical informationが正確な解釈のために必要です (英字でご記入ください)
_____________________________
A. Patient Name
B. Age of manifestation ______________
C. Unaffected
Clinical information
D.
Family History:
D.1
D.2
Consanguinity
Affected siblings
D.1.1 YES
D.1.2 NO
D.2.1 YES
D.2.2
NO
Pedigree
8
A. Neurology
2. Skin and integument
3. Endocrine
1. Behavioral abnormality
B. Metabolism
2.1 Abnormal skin pigmentation
3.1 Diabetes mellitus
1.1 Autism
1. Abnormal creatine kinase
2.2 Abnormal hair
3.2 Hypo / hyperparathyroidism
1.2 Attention deficit disorder
2. Decreased plasma carnitine
2.3 Abnormal nail
3.3 Hypo / hyperthyroidism
1.3 Psychiatric diseases
3. Hyperalaninemia
2.4 Hyperextensible skin
H. Reproduction
2. Brain imaging
4. Hypoglycemia
2.5 Ichthyosis
1. Abnormal external genitalia
2.1 Abnormal myelination
5. Increased CSF lactate
F. Cardiovascular
2. Abnormal internal genitalia
2.2 Abnormal cortical gyration
6. Increased serum pyruvate
1. Angioedema
3. Hypogonadism
2.3 Agenesis of corpus callosum
7. Ketosis
2. Aortic dilatation
4. Hypospadias
2.4 Brain atrophy
8. Lactic acidosis
3. Arrhythmia
5. Infertility
2.5 Cerebellar hypoplasia
9. Organic aciduria
4. Coarctation of aorta
I. Oncology
2.6 Heterotopia
C. Eye
5. Defect of atrial septum
1. Adenomatous polyposis
2.7 Holoprosencephaly
1. Blepharospasm
6. Defect of ventricular septum
2. Breast carcinoma
2.8 Hydrocephalus
2. Cataract
7. Dilated cardiomyopathy
3. Colorectal carcinoma
2.9 Leukodystrophy
3. Coloboma
8. Hypertension
4. Leukemia
2.10 Lissencephaly 4. Glaucoma
9. Hypertr. cardiomyopathy
5. Myelofibrosis
3. Developmental delay
5. Microphthalmos
10. Hypotension
6. Neoplasm of the lung
3.1 Delayed motor
6. Nystagmus
11. Lymphedema
7. Neoplasm of the skin
3.2 Delayed language dev.
7. Ophthalmoplegia
12. Malf. of heart and great vessels
8. Paraganglioma
3.3 Developmental regression
8. Optic atrophy
13. Myocardial infarction
9. Pheochromocytoma
3.4 Intellectual disability
9. Ptosis
14. Stroke
J. Hematology and Immunology
4. Movement abnormality
10. Retinitis pigmentosa
15. Tetralogy of Fallot
1. Abnormality of coagulation
4.1 Ataxia
11. Retinoblastoma
16. Vasculitis
2. Anemia
4.2 Chorea 12. Strabismus
3. Immunodeficiency
4.3 Dystonia
13. Visual impairment
G. Gastrointestinal,
Genitourinary, Endocrine
4.4 Parkinsonism
D. Mouth, Throat and Ear
1. Gastrointestinal
5. Pancytopenia
5. Neuromuscular abnormality
1. Abnormality of dental color
1.1 Aganglionic megacolon
6. Abnormal hemoglobin
5.1 Muscular hypotonia
2. Cleft lip / palate
1.2 Constipation
7. Splenomegaly
5.2 Muscular hypertonia
3. Conductive hearing impair.
1.3 Diarrhea
8. Thrombocytopenia
5.3 Hyperreflexia
4. External ear malformation
1.4 High hepatic transaminases
K. Prenatal and development
5.4 Spasticity
5. Hypodontia
1.5 Gastroschisis
1. Dysmorphic facial features
6. Seizures
6. Sensoneural hearing impair.
1.6 Hepatic failure
2. Failure to thrive
6.1 Febrile seizures
E. Skin, Integument and Skeletal
1.7 Hepatomegaly
3. Hemihypertrophy
6.2 Focal seizures
1. Skeletal
1.8 Obesity
4. Hydrops fetalis
6.3 Generalized seizures
1.1 Abnormal limb morphology
1.9 Pyloric stenosis
5. IUGR
7. Others
1.2 Abnormal skeletal system
1.10 Vomiting
6. Oligohydramnios
7.1 Craniosynostosis 1.3 Abnormal vertebral column
2. Genitourinary
7. Overgrowth
7.2 Dementia
1.4 Joint hypermobility
2.1 Abnormal renal morphology
8. Polyhydramnios
7.3 Encephalopathy
1.5 Multiple joint contractures
2.2 Abnormal urinary system
9. Premature birth
7.4 Headache/ Migraine
1.6 Polydactyly
2.3 Hydronephrosis
10. Short stature
7.5 Macrocephaly
1.7 Scoliosis
2.4 Renal agenesis
11. Tall stature
7.6 Microcephaly
1.8 Syndactyly
2.5 Renal cyst
7.7 Neuropathy
1.9 Talipes equinovarus
2.6 Renal tubular dysfunction
dev.
V66.1_April2016
7.8 Stroke
4. Neutropenia
記入必須
記入必須
該当するフェノタイプにチェックをお入れください
› Metabolic Diseases - Panels
Panel name
Genes
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
S
P*
SD
P*
SD
P*
SD
P*
Ceroid lipofuscinosis panel
CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5,
MFSD8, PPT1, TPP1
Diabetes neonatal panel
ABCC8, FOXP3, G6PC2, GCK, GLIS3, INS, INSR,
KCNJ11, NEUROG3, PDX1
ABCC8, GCK, PDX1, INS, KCNJ11
5079
Diamond-Blackfan anemia panel
RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19,
RPS24, RPS26, RPS7
RPL35A, RPS17, RPL11, RPL5,
RPS26, RPS19
5081
Familial hypercholesterolemia panel
APOB, GHR, LDLR, PCSK9
LDLR, GHR
5214
Fatty acid oxidation disorder panel
ACAD9, ACADM, ACADS, ACADVL, CPT1A,
CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH,
HADHA, HADHB, HMGCL, HSD17B10, PPARG,
SLC22A5, SLC25A20, TAZ
PPARG, SLC22A5, ACADVL
5268
SD
P*
Glycogen storage disease panel (basic)
G6PC, SLC37A4, AGL, GBE1
5203
S
P*
Glycogen storage disease panel (advanced)
GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1,
PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA,
ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1,
PRKAG2, PHKG2
5204
S
P*
Glycosylation disorder panel
PMM2, MPI, ALG6, ALG3, ALG12, ALG8,
DPAGT1, ALG1, RFT1, ALG11, SRD5A3, TUSC3,
MGAT2, TMEM165
5083
S
P*
Hyperinsulinemic hypoglycemia panel
ABCC8, GCK, GLUD1, HADH, INSR, KCNJ11,
SLC16A1
ABCC8, GCK, KCNJ11
5278
SD
P*
Leigh syndrome and mitochondrial encephalopathy panel
ACAD9, ADCK3, AIFM1, APTX, ATPAF2, BCS1L,
C10orf2, NDUFAF6, COQ2, COQ9, COX10,
COX15, COX6B1, DARS2, DGUOK, DLAT, DLD,
DNM1L, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LRPPRC, MPV17, NDUFA1,
NDUFA10, NDUFA11, NDUFA2, NDUFA13,
NDUFAF1, NDUFAF2, NDUFAF4, NDUFS1,
NDUFS2, NDUFS3, NDUFS4, NDUFS6,
NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL,
NDUFA12, NDUFA9, NDUFAF5, SDHA, PC,
PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2,
RARS2, SCO1, SCO2, SDHAF1, SUCLA2,
SUCLG1, SURF1, TACO1, TK2, TMEM70, TSFM,
TTC19, TUFM, TYMP
C10orf2, SDHAF1, SUCLA2, COX10,
APTX, SUCLG1, MPV17, DGUOK,
PDHA1, SDHA, FH, TK2
5064
SD
P*
Lysosomal storage disease panel
ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB,
GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA,
SMPD1
HEXA, SMPD1, GALC
5101
Methylmalonic acidemia panel (basic)
MCEE, MMAA, MMAB, MMADHC, MUT
5216
Methylmalonic acidemia panel (advanced)
ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, SUCLA2, SUCLG1, MLYCD
MTRR, MUT, SUCLA2, SUCLG1
5217
SD
S
SD
P*
P*
P*
MODY panel
ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, NKX2-2,
PAX4, PDX1, RFX6, ZFP57
ABCC8, CEL, GCK, KCNJ11, HNF4A,
PDX1, HNF1A, INS, PAX4, NEUROD1, HNF1B, ZFP57, KLF11
5078
SD
P*
Mucopolysaccharidosis panel
ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS,
GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH
IDS
5069
Refsum disease panel
PEX1, PEX2, PEX26, PEX7, PHYH
Surfactant metabolism dysfunction panel
ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB,
SFTPC, SFTPD
CSF2RA
5211
Urea cycle disorder panel
ARG1, ASL, ASS1, CPS1, NAGS, OTC
OTC
5072
Zellweger syndrome panel
PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12,
PEX13, PEX14, PEX16, PEX19, PEX26
SD
S
SD
SD
S
P*
P*
P*
P*
P*
5037
5094
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
5049
V66.1_April2016
9
› Metabolic Diseases - Large Extended Screening Panels
Panel name
CentoICU platinum
CentoICU platinum plus
Test
code
Genes
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
5288
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
5289
L P
L P*
L P*
› Metabolic Diseases
Gene
Test
code
OMIM Gene
2-aminoadipic 2-oxoadipic aciduria
DHTKD1
2317
614984
2-methylbutyrylglycinuria
ACADSB
2778
600301
3-beta-hydroxysteroid dehydrogenase deficiency type 2
HSD3B2
74
613890
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMGCL
366
613898
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
HMGCS2
2840
600234
HIBCH
2839
610690
Disease
3-hydroxyisobutryl-CoA hydrolase deficiency
10
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Gene
Test
code
OMIM Gene
3-methylglutaconic aciduria type 1
AUH
1350
600529
3-methylglutaconic aciduria type 3
OPA3
1402
606580
3-methylglutaconic aciduria type 5
DNAJC19
2298
608977
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SERAC1
2299
614725
5-oxoprolinase deficiency
OPLAH
2855
614243
CYP17A1
73
609300
Abetalipoproteinemia
MTTP
2763
157147
Acetycholinesterase deficiency
ACHE
2786
100740
ACADM
330
607008
Acyl-CoA multiple dehydrogenase deficiency
ETFA
332
608053
Acyl-CoA multiple dehydrogenase deficiency
ETFB
333
130410
Acyl-CoA multiple dehydrogenase deficiency
ETFDH
331
231675
Acyl-CoA short-chain dehydrogenase deficiency
ACADS
334
606885
Acyl-CoA very long-chain dehydrogenase deficiency
ACADVL
335
609575
Adenine phosphoribosyltransferase deficiency
APRT
2761
102600
Adenylosuccinase deficiency
ADSL
1571
608222
CYP21A2
336
613815
POR
75
124015
CYP11B1
337
610613
NR0B1
338
300473
Alkaptonuria
HGD
16
607474
Alpha-2-macroglobulin deficiency
A2M
1825
103950
Alpha-ketoglutarate dehydrogenase deficiency
OGDH
2854
613022
Alpha-methylacyl CoA racemase deficiency
AMACR
339
604489
ACY1
1572
104620
AMP deaminase deficiency, erythrocytic
AMPD3
2254
102772
Amyloidosis, familial visceral
APOA1
2106
107680
GBE1
340
607839
Anemia dyserythropoietic type 1A
CDAN1
341
607465
Anemia dyserythropoietic type 2
SEC23B
342
610512
SERPINA1
345
107400
Aplastic anemia
IFNG
343
147570
Aplastic anemia
PRF1
225
170280
Aplastic anemia
TERC
291
602322
Aplastic anemia
TERT
292
187270
Aplastic anemia, SBDS related
SBDS
252
607444
Apolipoprotein C-II deficiency
APOC2
346
608083
HSD11B2
76
614232
Arginase deficiency
ARG1
347
608313
Arginine-glycine amidinotransferase deficiency
GATM
348
602360
Argininosuccinic aciduria
ASL
349
608310
Aromatic L-amino acid decarboxylase deficiency
DDC
2835
107930
Asparaginesynthetase deficiency
ASNS
2013
108370
Aspartylglucosaminuria
AGA
2244
613228
ST6GAL2
2006
608472
UPB1
2466
606673
Bile acid synthesis defect type 2, congenital
AKR1D1
2779
604741
Bile acid synthesis defect type 3, congenital
CYP7B1
350
603711
Biotinidase deficiency
BTD
351
609019
Bloom syndrome
BLM
352
604610
Branched-chain aminotransferase 1 deficiency
BCAT1
2656
113520
Branched-chain aminotransferase 2 deficiency
BCAT2
2657
113530
Branched-chain ketoacid dehydrogenase kinase deficiency
BCKDK
2795
614901
SCNN1A
214
600228
Butyrylcholinesterase deficiency
BCHE
2741
177400
Carbamoylphosphate synthetase I deficiency
CPS1
353
608307
SLC22A5
1463
603377
Carnitine palmitoyltransferase 1A deficiency
CPT1A
1779
600528
Carnitine palmitoyltransferase 1B deficiency
CPT1B
1362
601987
Carnitine palmitoyltransferase 2 deficiency
CPT2
354
600650
SLC25A20
1573
613698
Catechol-o-methyltransferase deficiency
COMT
2768
116790
Ceroid lipofuscinosis neuronal type 1
PPT1
355
600722
Ceroid lipofuscinosis neuronal type 2
TPP1
1613
607998
Ceroid lipofuscinosis neuronal type 3
CLN3
1273
607042
Ceroid lipofuscinosis neuronal type 4
DNAJC5
1569
611203
Disease
17-hydroxylation activity deficiency
Acyl-CoA medium-chain dehydrogenase deficiency
Adrenal hyperplasia due to 21-hydroxylase deficiency
Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency
Adrenal hypoplasia
Aminoacylase deficiency
Andersen disease
Antitrypsin-alpha-1 deficiency
Apparent mineralocorticoid excess
Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency
Beta-ureidopropionase deficiency
Bronchiectasis with or without elevated sweat chloride type 2
Carnitine deficiency
Carnitine-acylcarnitine translocase deficiency
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
V66.1_April2016
11
Disease
Gene
Test
code
OMIM Gene
Ceroid lipofuscinosis neuronal type 5
CLN5
358
608102
Ceroid lipofuscinosis neuronal type 6
CLN6
359
606725
Ceroid lipofuscinosis neuronal type 7
MFSD8
360
611124
Ceroid lipofuscinosis neuronal type 8
CLN8
361
607837
Ceroid lipofuscinosis neuronal type 10
CTSD
356
116840
Ceroid lipofuscinosis neuronal type 11
GRN
762
138945
ABHD5
362
604780
MT-RNR2
2556
561010
Cholestasis (intrahepatic) of pregnancy
ABCB4
1858
171060
Cholestasis progressive intrahepatic type 1
ATP8B1
114
602397
Cholestasis progressive intrahepatic type 2
ABCB11
177
603201
Cholestasis progressive intrahepatic type 3
ABCB4
1858
171060
LIPA
489
613497
SLC25A13
363
603859
ASS1
364
603470
CoA-2 4-dienoyl reductase 1 deficiency
DECR1
365
222745
CoA-3-hydroxyacyl dehydrogenase deficiency
HADH
367
601609
CoA-3-methylcrontonyl carboxylase 1 deficiency
MCCC1
368
609010
CoA-3-methylcrontonyl carboxylase 2 deficiency
MCCC2
369
609014
Colchicine resistance
ABCB1
1790
171050
Combined D-2- and L-2-hydroxyglutaric aciduria
SLC25A1
2235
190315
Combined malonic and methylmalonic aciduria
ACSF3
1454
614245
Combined oxidative phosphorylation deficiency type 1
GFM1
1406
606639
Combined oxidative phosphorylation deficiency type 2
MRPS16
981
609204
Combined oxidative phosphorylation deficiency type 3
TSFM
1410
604723
Combined oxidative phosphorylation deficiency type 4
TUFM
1412
602389
Combined oxidative phosphorylation deficiency type 5
MRPS22
2500
605810
Combined oxidative phosphorylation deficiency type 6
AIFM1
1353
300169
Combined oxidative phosphorylation deficiency type 7
C12ORF65
1365
613541
Combined oxidative phosphorylation deficiency type 8
AARS2
2607
612035
Combined oxidative phosphorylation deficiency type 9
MRPL3
2184
607118
Combined oxidative phosphorylation deficiency type 10
MTO1
2316
614667
Combined oxidative phosphorylation deficiency type 11
RMND1
2366
614917
Combined oxidative phosphorylation deficiency type 12
EARS2
2658
612799
Combined oxidative phosphorylation deficiency type 13
PNPT1
2686
610316
Combined oxidative phosphorylation deficiency type 14
FARS2
2685
611592
Combined oxidative phosphorylation deficiency type 15
MTFMT
2025
611766
Combined oxidative phosphorylation deficiency type 16
MRPL44
2684
611849
Combined oxidative phosphorylation deficiency type 17
ELAC2
1197
605367
Combined oxidative phosphorylation deficiency type 18
SFXN4
2345
615564
Combined oxidative phosphorylation deficiency type 19
LYRM4
2683
613311
Combined oxidative phosphorylation deficiency type 20
VARS2
2507
612802
Combined oxidative phosphorylation deficiency type 21
TARS2
2682
612805
Combined oxidative phosphorylation deficiency type 22
ATP5A1
2681
164360
Combined oxidative phosphorylation deficiency type 23
GTPBP3
2680
608536
Combined oxidative phosphorylation deficiency type 24
NARS2
2679
612803
Combined oxidative phosphorylation deficiency type 25
MARS2
2678
609728
Combined oxidative phosphorylation deficiency type 26
TRMT5
2677
611023
Congenital disorder of glycosylation, type Ip
ALG11
2393
613666
Congenital disorder of glycosylation, type Iq
SRD5A3
2394
611715
CPOX
2223
612732
AGL
9
610860
Coumarin/Warfarin resistance due to CYP2C9 variants
CYP2C9
2880
122720
Creatine deficiency syndrome X-linked
SLC6A8
276
300036
CYP2C19 related poor drug metabolism
CYP2C19
1949
124020
CYP2D6 related poor drug metabolism
CYP2D6
2114
124030
Cystathioninuria
CTH
2845
219500
Cystic fibrosis
CFTR
370
602421
SLC6A14
2700
300444
CTNS
371
606272
Cytochrome P450 deficiency
CYP1A2
1988
124060
D-2-hydroxyglutaric aciduria type 1
D2HGDH
1515
609186
D-2-hydroxyglutaric aciduria type 2
IDH2
2143
147650
D-glyceric aciduria
GLYCTK
2838
610516
Diabetes insipidus, nephrogenic, X-linked
AVPR2
28
300538
AVP
2785
192340
Chanarin-Dorfman syndrome
Chloramphenicol resistance, MT-RNR2 related
Cholesteryl ester storage disease
Citrin deficiency
Citrullinemia
Coproporphyria
Cori Forbes disease
Cystic fibrosis, SLC6A14 related
Cystinosis, nephropathic
Diabetes insipidus, neurohypophyseal
12
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
S D H P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Gene
Test
code
OMIM Gene
Diabetes mellitus type 1
INS
90
176730
Diabetes mellitus, insulin-resistant with acanthosis nigricans
INSR
372
147670
Diabetes mellitus, neonatal
GLIS3
1458
610192
Diabetes mellitus, noninsulin-dependent
ABCC8
429
600509
Diabetes mellitus, noninsulin-dependent
AKT2
2782
164731
Diabetes mellitus, noninsulin-dependent
KCNJ11
146
600937
Diabetes mellitus, permanent neonatal
ABCC8
429
600509
Diabetes mellitus, permanent neonatal
NEUROG3
1504
604882
ABCC8
429
600509
IGF2
1751
147470
Diarrhea type 1, secretory chloride, congenital
SLC26A3
2909
126650
Diarrhea type 4, malabsorptive, congenital
NEUROG3
1504
604882
DPYD
2257
612779
Dimethylglycine dehydrogenase deficiency
DMGDH
2470
605849
Efavirenz, poor metabolism of
CYP2B6
2502
123930
TMPRSS15
2516
606635
SLC16A1
2643
600682
GLA
373
300644
Factor II deficiency
F2
374
176930
Factor V deficiency
F5
375
612309
Factor XIIIB deficiency
F13B
2328
134580
Fanconi anemia type A
FANCA
376
607139
Fanconi anemia type B
FANCB
195
300515
Fanconi anemia type C
FANCC
378
613899
Fanconi anemia type D1
BRCA2
379
600185
Fanconi anemia type D2
FANCD2
380
613984
Fanconi anemia type E
FANCE
381
613976
Fanconi anemia type F
FANCF
382
613897
Fanconi anemia type G
FANCG
383
602956
Fanconi anemia type I
FANCI
384
611360
Fanconi anemia type J
BRIP1
385
605882
Fanconi anemia type L
FANCL
386
608111
Fanconi anemia type M
FANCM
387
609644
Fanconi anemia type N
PALB2
388
610355
Fanconi anemia type P
SLX4
389
613278
Fanconi anemia, XRCCR2 related
XRCC2
297
600375
Fanconi-Bickel syndrome
SLC2A2
390
138160
Farber disease
ASAH1
391
613468
LCAT
1962
606967
SLC46A1
2866
611672
FBP1
392
611570
Fructose intolerance
ALDOB
393
612724
Fructose uptake deficiency, SLC2A5 related
SLC2A5
2737
138230
KHK
394
614058
FUCA1
197
612280
FH
1335
136850
GABA-transaminase deficiency
ABAT
2776
137150
Galactokinase deficiency
GALK1
396
604313
Galactose epimerase deficiency
GALE
397
606953
Galactosemia
GALT
398
606999
Galactosialidosis
CTSA
1433
613111
Gallbladder disease type 1
ABCB4
1858
171060
GBA
399
606463
Glucocorticoid deficiency type 1
MC2R
1521
607397
Glucocorticoid deficiency type 2
MRAP
1887
609196
Glucose-6-phosphate dehydrogenase deficiency with nonspherocytic hemolytic anemia
G6PD
400
305900
SLC5A1
1977
182380
Glutamate formiminotransferase deficiency
FTCD
2241
606806
Glutamine deficiency, congenital
GLUL
2616
138290
Glutaric acidemia type 1
GCDH
401
608801
Glutaric aciduria type 3
SUGCT
2869
609187
Glutathione S-transferase theta-1 defficiency
GSTT1
1915
600436
Glutathione synthetase deficiency
GSS
1570
601002
Glycerol kinase deficiency
GK
402
300474
PRKAG2
226
602743
GYS1
403
138570
Diabetes mellitus, transient neonatal type 2
Diabetes, IGF2 related
Dihydropyrimidine dehydrogenase deficiency
Enterokinase deficiency
Erythrocyte lactate transporter defect
Fabry disease
Fish eye disease
Folate malabsorption, hereditary
Fructose-1,6-bisphosphatase deficiency
Fructosuria essential
Fucosidosis
Fumarase deficiency
Gaucher disease
Glucose/Galactose malabsorption
Glycogen storage disease of heart (lethal)
Glycogen storage disease type 0 muscle
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
S D H P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
13
Gene
Test
code
OMIM Gene
Glycogen storage disease type 0
GYS2
1875
138571
Glycogen storage disease type 1A
G6PC
404
613742
Glycogen storage disease type 1B
SLC37A4
275
602671
Glycogen storage disease type 1C
SLC37A4
275
602671
Glycogen storage disease type 2
GAA
405
606800
Glycogen storage disease type 3
AGL
9
610860
Glycogen storage disease type 4
GBE1
340
607839
Glycogen storage disease type 5
PYGM
235
608455
Glycogen storage disease type 6B
PYGL
407
613741
Glycogen storage disease type 7
PFKM
213
610681
Glycogen storage disease type 9A
PHKA2
408
300798
Glycogen storage disease type 9B
PHKB
409
172490
Glycogen storage disease type 9C
PHKG2
1873
172471
Glycogen storage disease type 10
PGAM2
1392
612931
Glycogen storage disease type 11
LDHA
410
150000
Glycogen storage disease type 12
ALDOA
1874
103850
Glycogen storage disease type 13
ENO3
411
131370
Glycogen storage disease type 14
PGM1
1393
171900
Glycogen storage disease type 15
GYG1
1574
603942
Glycosylation disorder type 1A
PMM2
218
601785
Glycosylation disorder type 1B
MPI
168
154550
Glycosylation disorder type 1C
ALG6
15
604566
Glycosylation disorder type 1D
ALG3
14
608750
Glycosylation disorder type 1E
DPM1
412
603503
Glycosylation disorder type 1F
MPDU1
167
604041
Glycosylation disorder type 1G
ALG12
12
607144
Glycosylation disorder type 1H
ALG8
37
608103
Glycosylation disorder type 1I
ALG2
13
607905
Glycosylation disorder type 1J
DPAGT1
634
191350
Glycosylation disorder type 1K
ALG1
11
605907
Glycosylation disorder type 1L
ALG9
17
606941
Glycosylation disorder type 1M
DOLK
414
610746
Glycosylation disorder type 1N
RFT1
241
611908
Glycosylation disorder type 1O
DPM3
1575
605951
Glycosylation disorder type 1S
ALG13
1726
300776
Glycosylation disorder type 1U
DPM2
2619
603564
Glycosylation disorder type 2A
MGAT2
165
602616
Glycosylation disorder type 2B
MOGS
1576
601336
Glycosylation disorder type 2C
SLC35C1
274
605881
Glycosylation disorder type 2D
B4GALT1
316
137060
Glycosylation disorder type 2E
COG7
198
606978
Glycosylation disorder type 2F
SLC35A1
273
605634
Glycosylation disorder type 2G
COG1
416
606973
Glycosylation disorder type 2H
COG8
417
606979
Glycosylation disorder type 2I
COG5
1578
606821
Glycosylation disorder type 2J
COG4
1577
606976
Glycosylation disorder type 2K
TMEM165
1196
614726
Glycosylation disorder type 2M
SLC35A2
2045
314375
Glycosylation disorder type 3
COG6
1579
606977
Glycosylation disorder type IR
DDOST
1107
602202
Glycosylation disorder x-linked
SSR4
1963
300090
GM1-gangliosidosis type 1
GLB1
127
611458
GM1-gangliosidosis type 2
GLB1
127
611458
GM2-gangliosidosis type 2
HEXB
133
606873
Guanidinoacetate methyltransferase deficiency
GAMT
418
601240
SLC6A19
419
608893
Hawkinsinuria
HPD
2841
609695
Hemochromatosis classical
HFE
420
613609
Hemochromatosis type 2A
HFE2
421
608374
Hemochromatosis type 2B
HAMP
422
606464
Hemochromatosis type 3
TFR2
423
604720
Hemochromatosis type 4
SLC40A1
424
604653
F8
1879
300841
Holocarboxylase synthetase deficiency
HLCS
1459
609018
Hurler syndrome
IDUA
141
252800
Hurler-Scheie syndrome
IDUA
141
252800
Disease
Hartnup disorder
Hemophilia A
14
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
S D H P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
S D H P*
V66.1_April2016
Disease
Hypercalcemia infantile type
Gene
Test
code
OMIM Gene
CYP24A1
1888
126065
Hypercholanemia
BAAT
2186
602938
Hypercholanemia
TJP2
1580
607709
Hypercholesterolemia
ABCA1
2098
600046
Hypercholesterolemia autosomal dominant type 3
PCSK9
425
607786
LDLRAP1
426
605747
Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant
LDLR
427
606945
Hypercholesterolemia type B autosomanl dominant
APOB
428
107730
Hypercholesterolemia, familial
GHR
1956
600946
Hyperchylomicronemia type 5
APOA5
2406
606368
Hyperinsulinaemia, association with, G6PC2 related
G6PC2
1503
608058
Hyperinsulinemic hypoglycemia type 1
ABCC8
429
600509
Hyperinsulinemic hypoglycemia type 2
KCNJ11
146
600937
Hyperinsulinemic hypoglycemia type 3
GCK
430
138079
Hyperinsulinemic hypoglycemia type 6
GLUD1
431
138130
Hyperinsulinemic hypoglycemia type 7
SLC16A1
2643
600682
Hyperinsulinism, UCP2 related
UCP2
2872
601693
Hyperlipidemia, familial combined, susceptibility to
USF1
2408
191523
LPL
432
609708
AASS
2775
605113
SLC30A10
745
611146
ADK
2602
102750
SLC25A15
2015
603861
Hyperoxaluria type 1
AGXT
433
604285
Hyperoxaluria type 2
GRHPR
434
604296
Hyperoxaluria type 3
HOGA1
1865
613597
Hyperoxaluria, SLC26A6 related
SLC26A6
2267
610068
Hyperphenylalaninemia, BH4 deficient, type C
QDPR
435
612676
Hyperphenylalaninemia, BH4 deficient, type D
PCBD1
2861
126090
Hyperphenylalaninemia, BH4-deficient, type A
PTS
2501
612719
PRODH
2864
606810
LIPI
2407
609252
Hypoaldosteronism congenital due to CMO I deficiency
CYP11B2
79
124080
Hypoaldosteronism, congenital, due to CMO II deficiency
CYP11B2
79
124080
Hypoalphalipoproteinemia
APOA1
2106
107680
Hypocalcemia, autosomal dominant 2
GNA11
2074
605573
Hypocalciuric hypercalcemia, familial type 3
AP2S1
2073
602242
Hypoglycemia of infancy, leucine-sensitive
ABCC8
429
600509
AKT2
2782
164731
Hypomagnesemia type 1
TRPM6
2035
607009
Hypomagnesemia type 2
FXYD2
1581
601814
Hypomagnesemia type 3
CLDN16
1582
603959
Hypomagnesemia type 4
EGF
1946
131530
Hypomagnesemia type 5
CLDN19
1583
610036
Hypomagnesemia type 6
CNNM2
1890
607803
Hypophosphatasia, adult
ALPL
2237
171760
Hypophosphatasia, childhood
ALPL
2237
171760
Hypophosphatasia, infantile
ALPL
2237
171760
Hypophosphatemic rickets with hypercalciuria
SLC34A3
2649
609826
Hypouricemia, renal type 1
SLC22A12
2295
607096
Hypouricemia, renal type 2
SLC2A9
2296
606142
Insulin-like growth factor resistance
IGF1R
1725
147370
Isobutyryl-CoA dehydrogenase deficiency
ACAD8
2777
604773
IVD
436
607036
GALC
437
606890
L2HGDH
438
609584
LCT
2852
603202
Lacticacidemia due to PDX1 deficiency
PDHX
1396
608769
Lactose intolerance, adult type
MCM6
1930
601806
LCAD deficiency
ACADL
1348
609576
LCAT DEFICIENCY
LCAT
1962
606967
Leukocyte adhesion deficiency
ITGB1
2220
135630
Leukocyte adhesion deficiency
ITGB2
2221
600065
Lipodystrophy generalized type 1
AGPAT2
439
603100
Lipodystrophy generalized type 2
BSCL2
440
606158
Lipodystrophy generalized type 4
PTRF
2207
603198
Hypercholesterolemia autosomal recessive
Hyperlipoproteinemia type 1
Hyperlysinemia type 1
Hypermanganesemia with dystonia, polycythemia and cirrhosis
Hypermethioninemia due to adenosine kinase deficiency
Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome
Hyperprolinemia type 1
Hypertriglyceridemia, susceptibility to
Hypoinsulinemic hypoglycemia with hemihypertrophy
Isovaleric acidemia
Krabbe disease
L-2-hydroxyglutaric aciduria
Lactase deficiency, congenital
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
V66.1_April2016
15
Disease
Test
code
OMIM Gene
Lipodystrophy type 2, familial partial
LMNA
158
150330
Lipodystrophy, familial partial, type 3
PPARG
2566
601487
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA
132
600890
Lung alpha-beta hydrolase deficiency type 1
ABHD1
1828
612195
Lysosomal acid phosphatase deficiency
ACP2
1883
171650
Malonyl-CoA decarboxylase deficiency
MLYCD
2183
606761
Mannose-binding protein deficiency
MBL2
441
154545
Mannosidosis, beta A, lysosomal-like
MANBAL
2414
Mannosidosis-alpha
MAN2B1
442
609458
Mannosidosis-beta
MANBA
443
609489
Maple sirup urine disease type 2
DBT
446
248610
Maple sirup urine disease type 3
DLD
447
238331
Maple syrup urine disease type 1a
BCKDHA
444
608348
Maple syrup urine disease type 1b
BCKDHB
445
248611
Maple syrup urine disease, mild variant
PPM1K
2413
611065
Maturity-onset diabetes of the young type 1
HNF4A
448
600281
Maturity-onset diabetes of the young type 2
GCK
430
138079
Maturity-onset diabetes of the young type 3
HNF1A
450
142410
Maturity-onset diabetes of the young type 4
PDX1
451
600733
Maturity-onset diabetes of the young type 5
HNF1B
452
189907
Maturity-onset diabetes of the young type 6
NEUROD1
126
601724
Maturity-onset diabetes of the young type 7
KLF11
106
603301
Maturity-onset diabetes of the young type 8
CEL
107
114840
Maturity-onset diabetes of the young type 9
PAX4
108
167413
Maturity-onset diabetes of the young type 10
INS
90
176730
Maturity-onset diabetes of the young type 11
BLK
1502
191305
NKX2-2
1505
604612
Maturity-onset diabetes of the young, RFX6 related
RFX6
1506
612659
Maturity-onset diabetes of the young, ZFP57 related
ZFP57
1507
612192
Mediterranean fever
MEFV
786
608107
MT-TL1
1317
590050
Metachromatic Leukodystrophy
ARSA
23
607574
Methylacetoacetic aciduria
ACAT1
453
607809
MTR
173
156570
Methylmalonate semialdehyde dehydrogenase deficiency
ALDH6A1
2784
603178
Methylmalonic aciduria Cb1D type
MMADHC
454
611935
Methylmalonic aciduria Cb1F type
LMBRD1
729
612625
Methylmalonic aciduria Cb1J type
ABCD4
1727
603214
Methylmalonic aciduria CbIA type
MMAA
456
607481
Methylmalonic aciduria CbIC type
MMACHC
458
609831
Methylmalonic aciduria CbIR type
CD320
1456
606475
Methylmalonic aciduria CblB type
MMAB
457
607568
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MUT
455
609058
Methylmalonyl-CoA epimerase deficiency
MCEE
2181
608419
Mevalonic aciduria
MVK
1741
251170
Microvascular complications of diabetes type 1
VEGFA
1584
192240
Microvascular complications of diabetes type 6, susceptibility to
SOD2
2416
147460
Mitochondrial complex III deficiency, nuclear type 7
UQCC2
2873
614461
Mitochondrial pyruvate carrier deficiency
MPC1
2849
614738
Molybdenum cofactor deficiency type A
MOCS1
1127
603707
Molybdenum cofactor deficiency type B
MOCS2
949
603708
Molybdenum cofactor deficiency type C
GPHN
1567
603930
Monocarboxylate transporter 1 deficiency
SLC16A1
2643
600682
Mucolipidosis type 2 alpha/beta
GNPTAB
130
607840
Mucolipidosis type 3 gamma
GNPTG
1585
607838
Mucolipidosis type 3
GNPTAB
130
607840
Mucolipidosis type 4
MCOLN1
459
605248
IDS
140
300823
Mucopolysaccharidosis type 3A
SGSH
460
605270
Mucopolysaccharidosis type 3B
NAGLU
461
609701
Mucopolysaccharidosis type 3C
HGSNAT
462
610453
Mucopolysaccharidosis type 3D
GNS
96
607664
Mucopolysaccharidosis type 4A
GALNS
463
612222
Mucopolysaccharidosis type 4B
GLB1
127
611458
Mucopolysaccharidosis type 6
ARSB
464
611542
Mucopolysaccharidosis type 7
GUSB
465
611499
Maturity-onset diabetes of the young, NKX2-2 related
MELAS syndrome, MT-TL1 related
Methylcobalamin deficiency CblG type
Mucopolysaccharidosis type 2
16
Gene
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Gene
Test
code
OMIM Gene
Mucopolysaccharidosis type 9
HYAL1
466
607071
Mucopolysaccharidosis type IH
IDUA
141
252800
Muscle glycogenosis
PHKA1
1394
311870
Myoadenylate deaminase deficiency
AMPD1
467
102770
N-acetylglutamate synthase deficiency
NAGS
468
608300
Neuraminidase deficiency
NEU1
181
608272
Niemann-Pick disease type A/B
SMPD1
469
607608
Niemann-Pick disease type C1
NPC1
189
607623
Niemann-Pick disease type C2
NPC2
470
601015
Odontohypophosphatasia
ALPL
2237
171760
Ornithine transcarbamoylase deficiency
OTC
206
300461
Orotic aciduria
UMPS
471
613891
Pancreatic agenesis type 2
PTF1A
2865
607194
Pancreatic and cerebellar agenesis
PTF1A
2865
607194
Pentosuria
DCXR
1234
608347
TNFRSF1A
476
191190
PAH
1461
612349
SLC7A5
2648
600182
Phosphoenolpyruvate carboxykinase deficiency, cytosolic
PCK1
2670
614168
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
PCK2
2655
614095
Phosphoglycerate dehydrogenase deficiency
PHGDH
669
606879
Phosphoribosylpyrophosphate synthetase superactivity
PRPS1
231
311850
Phosphoserine aminotransferase deficiency
PSAT1
1993
610936
Phosphoserine phosphatase deficiency
PSPH
1994
172480
GPR161
2503
Periodic fever autosomal dominant
Phenylketonuria
Phenylketonuria modifier, SLC7A5 related
Pituitary stalk interruption syndrome, GPR161 related
Pompe disease
GAA
405
606800
Porphyria acute intermittent
HMBS
478
609806
Porphyria congenital erythropoietic
UROS
1980
606938
Porphyria variegata
PPOX
2666
600923
Prolidase deficiency
PEPD
2206
613230
Propionic acidemia
PCCA
479
232000
Propionic acidemia
PCCB
480
232050
Prosaposin deficiency
PSAP
232
176801
Protoporphyria, erythropoietic, X-linked
ALAS2
2783
301300
HSD17B3
2088
605573
PNPO
1586
603287
PC
519
608786
Pyruvate dehydrogenase E1-alpha deficiency
PDHA1
211
300502
Pyruvate dehydrogenase E1-beta deficiency
PDHB
1395
179060
Pyruvate dehydrogenase E2 deficiency
DLAT
1438
608770
Pyruvate dehydrogenase lipoic acid synthetase deficiency
LIAS
2218
607031
Pyruvate dehydrogenase phosphatase deficiency
PDP1
743
605993
Pyruvate kinase deficiency with hemolytic anemia
PKLR
481
609712
Refsum disease
PEX7
212
601757
Refsum disease
PHYH
215
602026
SLC52A1
2867
607883
Riboflavinresponsive multiple acyl-CoA dehydrogenase deficiency
ETFDH
331
231675
Rickets, vitamin D 25-hydroxylation-deficient, type 1B
CYP2R1
2279
608713
Saccharopinuria
AASS
2775
605113
Sandhoff disease
HEXB
133
606873
SARDH
2617
604455
Scheie syndrome
IDUA
141
252800
Schindler disease
NAGA
483
104170
SERHL2
2308
Succinic semialdehyde dehydrogenase deficiency
ALDH5A1
2266
610045
Succinyl CoA:3-oxoacid CoA transferase deficiency
OXCT1
1762
601424
SI
1808
609845
Sulfatase deficiency
SUMF1
285
607939
Sulfite oxidase deficiency
SUOX
1821
606887
Surfactant metabolism dysfunction
SFTPD
2056
178635
Surfactant metabolism dysfunction type 1
SFTPB
1810
178640
Surfactant metabolism dysfunction type 2
SFTPC
1811
178620
Surfactant metabolism dysfunction type 3
ABCA3
1812
601615
Surfactant metabolism dysfunction type 4
CSF2RA
1813
306250
Surfactant metabolism dysfunction type 5
CSF2RB
1814
138981
Tangier disease
ABCA1
2098
600046
Pseudohermaphroditism with gynecomastia
Pyridoxamine 5'-phosphate oxidase deficiency
Pyruvate carboxylase deficiency
Riboflavin deficiency
Sarcosinemia
Serine hydrolase deficiency, SERHL2 related
Sucrase-isomaltase deficiency
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
17
Gene
Test
code
OMIM Gene
Tay-Sachs disease
HEXA
484
606869
Tay-Sachs disease AB variant
GM2A
485
613109
Thiamine metabolism dysfunction syndrome type 5
TPK1
1792
606370
TJP1 deficiency
TJP1
2113
601009
TPMT deficiency
TPMT
1475
187680
TALDO1
1937
602063
TCN2
45
613441
HADHA
132
600890
FMO3
1763
136132
Triosephosphate isomerase deficiency
TPI1
2902
190450
Tyrosine kinase 2 deficiency
TYK2
2079
176941
Tyrosinemia type 1B
GSTZ1
1876
603758
Tyrosinemia type 1
FAH
486
613871
Tyrosinemia type 2
TAT
2230
613018
Tyrosinemia type 3
HPD
2841
609695
Urbach-Wiethe disease
ECM1
1896
602201
Von-Gierke disease
G6PC
404
613742
Wilson disease
ATP7B
26
606882
Wolman disease
LIPA
489
613497
Xanthinuria type 1
XDH
1981
607633
Disease
Transaldolase defeciency
Transcobalamin II deficiency
Trifunctional protein deficiency
Trimethylaminuria
18
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
V66.1_April2016
› Neurological Diseases - Panels
Panel name
Genes
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
SD
P*
SDR
P*
Aicardi-Goutieres syndrome panel
ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B,
RNASEH2C, SAMHD1
RNASEH2B, RNASEH2A, TREX1,
RNASEH2C, SAMHD1
5036
Alzheimer dementia and dementia panel
APOE, APP, PRNP, PSEN1, PSEN2, SORL1,
TREM2
APP, PSEN1
5090
Amyotrophic lateral sclerosis (ALS) panel
ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB,
DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2,
SETX, SIGMAR1, SOD1, SPG20, TARDBP,
UBQLN2, VAPB, VCP, VEGFA, VPS54
PRPH2, SETX
5001
SDR
P*
Autism spectrum disorders panel
EN2, MECP2, NLGN3, NLGN4X, PDE8B, RPL10
NLGN4X, MECP2
5222
Bethlem myopathy panel
COL6A1, COL6A2, COL6A3, COL12A1
5115
P*
P*
CentoMito Genome
MT-ND1, MT-ND2, MT-CO1, MT-CO2, MT-ATP8,
MT-ATP6, MT-CO3, MT-ND3, MT-ND4L, MTND4, MT-ND5, MT-ND6, MT-CYB, MT-TF, MTRNR1, MT-TV, MT-RNR2, MT-TL1, MT-TI, MT-TQ,
MT-TM, MT-TW, MT-TA, MT-TN, MT-TC, MT-TY,
MT-TS1, MT-TD, MT-TK, MT-TG, MT-TR, MT-TH,
MT-TS2, MT-TL2, MT-TE, MT-TT, MT-TP
SD
S
5261
S
P*
Cerebellar ataxia panel
ADCK3, APTX, COQ2, COQ9, DNMT1, FXN,
PDSS1, PDSS2, POLG, SACS, SETX, SYNE1,
TTPA, VLDLR
POLG, SETX, VLDLR, APTX, SACS,
FXN
5029
SDR
P*
CMT neuropathy axonal autosomal dominant
panel
AARS, ARHGEF10, DNM2, GAN, GARS, GDAP1,
DYNC1H1, HSPB8, HSPB1, KIF1B, LMNA,
MED25, MFN2, MPZ, NEFL, RAB7A, SLC12A6,
TRPV4, YARS
GDAP1, NEFL, KIF1B, RAB7A,
LMNA, HSPB1, HSPB8, GARS,
MFN2, MPZ
5009
SD
P*
CMT neuropathy demyelinating panel
CTDP1, EGR2, FGD4, FIG4, GDAP1, GJB1,
LITAF, MTMR2, MPZ, NDRG1, NEFL, PMP22,
PRPS1, PRX, SBF2, SH3TC2
SH3TC2, NEFL, GDAP1, SBF2,
PMP22, EGR2, PRX, GJB1, MTMR2,
MPZ
5008
SD
P*
Congenital myasthenic syndrome panel
AGRN, CHAT, CHRNA1, CHRNB1, CHRND,
CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2,
MUSK, PLEC, RAPSN, SCN4A
SCN4A
5066
SD
P*
Congenital myopathy panel
ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2,
FHL1, KBTBD13, MAMLD1, MTM1, MTMR14,
MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1,
TPM2, TPM3
MYH7, MTM1, RYR1
5057
SD
P*
Dejerine-Sottas syndrome panel
MPZ, PMP22, PRX, EGR2, GJB1
EGR2, PRX, GJB1, PMP22, MPZ
5111
Dementia panel
APOE, APP, CHMP2B, CSF1R, FUS, GRN, MAPT,
PRNP, PSEN1, PSEN2, SORL1, TARDBP, TREM2,
UBE3A, VCP
PSEN1, GRN, APP, MAPT, UBE3A
5118
Dopa-responsive dystonia panel
GCH1, TH, SPR
TH, GCH1
5219
Dravet syndrome panel
SCN1A, GABRG2, SCN2A, SCN9A
SCN1A
5100
Dystonia panel
ATP1A3, COL6A3, GCH1, HPCA, PNKD, PRKRA,
PRRT2, RELN, SGCE, SLC2A1, SPR, TAF1, TH,
THAP1, TOR1A
THAP1, PRKRA, ATP1A3, GCH1,
SGCE, SLC2A1, TOR1A, TH
5099
S
S
S
S
S
P*
P*
P*
P*
P*
Early infantile epileptic encephalopathy panel
ARX, CDKL5, SLC25A22, STXBP1, SPTAN1,
SCN1A, KCNQ2, KCNT1, ARHGEF9, PCDH19,
PNKP, SCN2A, SCN8A, PLCB1
ARX, SCN1A, CDKL5, KCNQ2,
PCDH19
5026
SD
P*
Epilepsy (absence) in childhood panel
CACNA1H, GABRA1, GABRB3, GABRG2, JRK,
SLC2A1
SLC2A1, GABRB3
5056
Epilepsy (generalized) with febrile seizures
panel
GABRD, GABRG2, SCN1A, SCN1B, SCN2A,
SCN9A
SCN1A
5058
SD
SD
P*
P*
Epilepsy (partial) hereditary panel
CACNA1H, CACNB4, CHRNA2, CHRNA4,
CHRNB2, CLCN2, CPA6, DEPDC5, EFHC1,
GABRA1, GABRB3, GABRD, GABRG2, JRK,
KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, MTATP6, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A,
SLC2A1, SRPX2
SCN1A, LGI1, KCNQ3, KCNQ2, CHRNA4, CHRNB2, SLC2A1, GABRB3
5063
SD
P*
Epileptic encephalopathy panel
ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX,
CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1,
GABRG2, GAMT, GCSH, GLDC, GRIN2A,
GRIN2B, KCNJ10, KCNQ2, MAPK10, MECP2,
MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO,
PRRT2, RNASEH2A, RNASEH2B, RNASEH2C,
SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A,
SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC9A6,
SPTAN1, STXBP1, TBCE, TCF4, TREX1, UBE3A,
ZEB2
GRIN2B, ARX, AMT, SCN1A,
RNASEH2A, TREX1, MECP2, ZEB2,
FOXG1, KCNQ2, RNASEH2C, GCSH,
TCF4, RNASEH2B, UBE3A, GLDC,
CDKL5, SAMHD1, NRXN1, SLC2A1,
MTHFR, PCDH19, GRIN2A
5085
SD
P*
Episodic ataxia panel
CACNA1A, CACNB4, KCNA1, SLC1A3
CACNA1A, KCNA1
5103
Familial hemiplegic migraine panel
ATP1A2, CACNA1A, SCN1A
CACNA1A, SCN1A, ATP1A2
5104
Frontotemporal dementia panel
CHMP2B, FUS, GRN, MAPT, SIGMAR1, TARDBP,
UBQLN2, VCP
GRN, MAPT
5097
Hyperekplexia panel
ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5
GLRA1, SLC6A5, GLRB
5082
P*
P*
P*
P*
Joubert syndrome panel
AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A,
CEP290, CEP41, CSPP1, EXOC8, INPP5E, KIF7,
MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L,
TCTN1, TCTN2, TMEM138, TMEM216,
TMEM231, TMEM237, TMEM67, TTC21B,
ZNF423
S
S
S
S
NPHP1
5050
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
D
DR
D
D
D
DR
D
DR
D
SD
P*
V66.1_April2016
19
Genes
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
Leukodystrophy and peroxisome biogenesis
disorders panel
ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R,
CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3,
EIF2B4, EIF2B5, FA2H, FAM126A, GALC, GFAP,
GJC2, HEPACAM, HSPD1, MLC1, NDUFV1,
NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14,
PEX16, PEX19, PEX2, PEX26, PEX3, PEX5,
PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP,
RNASEH2A, RNASEH2B, RNASEH2C, RNASET2,
SAMHD1, SDHA, SLC16A2, SOX10, SUMF1,
TREM2, TREX1, HSD17B4, LMNB1, PEX11B,
PHYH, SCP2, SDHAF1, TYROBP
TREX1, PEX11B, PLP1, NOTCH3,
BEST1, RNASEH2B, MLC1, SAMHD1,
SDHAF1, LMNB1, RNASEH2A,
SOX10, RNASEH2C, ASPA, SDHA,
GALC, ABCD1
5086
SD
P*
Limb-girdle muscular dystrophy panel
ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF,
FKRP, FKTN, LAMA2, LMNA, MYOT, PLEC,
POMGNT1, POMT1, POMT2, SEPN1, SGCA,
SGCB, SGCD, SGCG, TCAP, TRIM32, TTN
(Hotspots)
SGCA, SGCD, POMT1, SGCG,
POMGNT1, LAMA2, CAV3, FKRP,
LMNA, SGCB, DYSF, POMT2,
CAPN3, MYOT, ANO5, FKTN
5030
SD
P*
Lissencephaly panel
ARX, DCX, NDE1, PAFAH1B1, POMT1, POMT2,
RELN, TUBA1A, YWHAE
POMT2, POMT1, ARX, DCX, YWHAE,
PAFAH1B1
5067
Malignant hyperthermia panel
CACNA1S, RYR1
RYR1, CACNA1S
5105
P*
P*
Mental retardation, X-linked panel
ABCD1, ACSL4, AFF2, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX,
BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX,
DKC1, DLG3, ELK1, FANCB, FGD1, FLNA, FMR1,
FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1,
HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1,
KIAA2022, KDM5C, KLF8, L1CAM, LAMP2,
MAGT1, MAOA, MBTPS2, MECP2, MED12,
MID1, MTM1, NDP, NDUFA1, NHS, NLGN3,
NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1,
OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6,
PHF8, PLP1, PORCN, PQBP1, PRPS1, RAB39B,
RPL10, RPS6KA3, SHROOM4, SLC16A2,
SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2,
SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B,
ZCCHC12, ZDHHC9, ZDHHC15, ZNF41, ZNF81,
ZNF674, ZNF711
SD
SD
IDS, IL1RAPL1, L1CAM, MECP2,
MID1, MTM1, NDP, NLGN4X,
OPHN1, OTC, PAK3, PCDH19, PLP1,
PQBP1, RPS6KA3, SLC6A8, TSPAN7
5015
SD
P*
Metabolic myopathies panel
ABHD5, ACADVL, AGL, CPT2, ENO3, ETFA,
ETFB, ETFDH, GAA, GBE1, GYG1, GYS1, LDHA,
LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1,
SLC22A5, ACADVL
PNPLA2, PRKAG2, PYGM, SLC22A5, SLC25A20,
TAZ
5092
SD
P*
Myoclonic dystonia panel
SGCE, DRD2, TOR1A
SGCE, TOR1A
5245
SD
P*
Myoclonic epilepsy panel
ASAH1, CACNB4, CERS1, CSTB, DRD2, EFHC1,
EPM2A, GABRA1, GABRD, GLDC, GOSR2,
NEU1, NHLRC1, NOL3, POLG, PRICKLE1,
PRICKLE2, SCARB2, SGCE
POLG, GLDC, NHLRC1, SGCE,
EPM2A
5265
SDR
P*
Myofibrillar myopathy panel
BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC,
LDB3, MYOT
MYOT, BAG3
5071
SD
P*
Myopathy-rhabdomyolysis syndrome panel
ACADL, ACADM, ACADVL, ACAD9, AGL,
AMPD1, C10orf2, CPT1B, CPT2, ETFA, ETFB,
GAA, GYS1, HADHA, HADHB, LPIN1, OPA1,
OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG,
POLG2, PYGM, RRM2B, SUCLA2, TK2, TYMP
SUCLA2, POLG, RRM2B, C10orf2,
ACADVL, POLG2, OPA1, TK2
5038
SD
P*
Nemaline myopathy panel
ACTA1, CFL2, MTM1, NEB, TNNT1, TPM2, TPM3 MTM1
5017
SD
P*
Neuronal migration disorders panel
ACTB, ACTG1, ARFGEF2, ARX, COL18A1,
COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3,
FH, FKRP, FKTN, FLNA, GPR56, IER3IP1, ISPD,
LAMA2, LAMC3, LARGE, MED12, MEF2C,
OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1,
POMT1, POMT2, PQBP1, RAB18, RAB3GAP1,
RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A,
TUBA8, TUBB2B, TUBB3, VDAC1, WDR62
FLNA, FGFR3, POMT2, FH, ARX,
POMGNT1, DCX, LARGE, LAMA2,
PQBP1, PAX6, POMT1, FKRP,
MEF2C, PAFAH1B1, FKTN
5087
SD
P*
Pantothenate kinase-associated neurodegeneration panel
ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL,
PANK2, PLA2G6, WDR45
PLA2G6, PANK2, ATP13A2
5091
Parkinsons disease panel
SNCA, LRRK2, VPS35, PARK2, PINK1, PARK7,
ATP13A2, PLA2G6, FBXO7, DNAJC6
PLA2G6, PINK1, ATP13A2, PARK7,
LRRK2, SNCA, PARK2
5114
Pontocerebellar hypoplasia panel
CASK, TSEN2, TSEN34, TSEN54, OPHN1,
RARS2, VRK1, EXOSC3, CHMP1A
OPHN1, CASK
5208
SD
SD
SD
P*
P*
P*
SCA panel
AFG3L2, CACNA1A, DNMT1, FGF14, IFRD1,
ITPR1, KCNC3, KCND3, PDYN, PRKCG, SPTBN2,
TGM6, TTBK2, VAMP1
CACNA1A
5106
SDR
P*
Spastic paraplegia panel, autosomal dominant
ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1,
REEP1, RTN2, SLC33A1, SPAST, ZFYVE27
ATL1, SPAST, NIPA1, REEP1
5021
SD
P*
Spastic paraplegia panel, autosomal recessive
AMPD2, AP4B1, AP4E1, AP4M1, AP4S1,
AP5Z1, ARL6IP1, ARSI, B4GALNT1, C12ORF65,
C19orf12, CCT5, CYP2U1, CYP7B1, DDHD1,
DDHD2, ENTPD1, ERLIN1, ERLIN2, FA2H,
FLRT1, GBA2, GJC2, KIF1A, NT5C2, PLP1,
PNPLA6, REEP2, SPG11, SPG20, SPG21, SPG7,
TECPR2, TFG, USP8, VPS37A, WDR48, ZFR,
ZFYVE26
SPG11, PLP1, SPG7
5022
SD
P*
Ullrich muscular dystrophy panel
COL6A1, COL6A2, COL6A3
5048
S
P*
Panel name
20
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
V66.1_April2016
Panel name
Deletion / duplication testing
(genes analyzed)
Genes
Walker-Warburg syndrome panel
FKRP, FKTN, ISPD, LARGE, POMT1, POMT2
POMT2, POMT1, LARGE, FKRP,
FKTN
Test
code
5108
SDRHC P
SD
P*
› Neurological Diseases - Large Extended Screening Panels
Panel name
AllNeuro panel
Genes
A2M, AAAS, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABCD4, ABHD12, ABHD5,
ACACA, ACAD9, ACADM, ACADS, ACADSB, ACAT1, ACE, ACO2, ACOX1, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTG1,
ACVRL1, ACY1, ADAM10, ADAR, ADCK3, ADK, ADSL, AFF2, AFG3L2, AGA, AGK, AGRN, AGTR2, AGXT, AHCY, AHI1,
AIFM1, AIMP1, AKT1, AKT3, ALAD, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1,
ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX5AP, ALS2, ALX1, ALX3, ALX4, AMACR, AMN,
AMPD1, AMT, ANG, ANK3, ANKRD11, ANO10, ANO5, AP1S1, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1,
APOE, APP, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6,
ARSA, ARSB, ARSE, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ATCAY, ATIC, ATL1, ATM, ATP10A, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP5E, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATPAF2, ATR, ATRX, B3GALTL,
B4GALT1, B9D1, B9D2, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCOR,
BCS1L, BDNF, BIN1, BLOC1S3, BLOC1S6, BOLA3, BRAF, BRAT1, BRWD3, BSCL2, BSND, C10orf2, C12orf57, C12orf65,
C19orf12, C5orf42, C9orf72, CA8, CACNA1A, CACNA1D, CACNA1H, CACNA1S, CACNB4, CACNG2, CAMTA1, CASC5,
CASK, CASR, CBL, CC2D1A, CC2D2A, CCDC28B, CCDC88C, CCM2, CCT5, CD207, CD320, CD36, CD59, CD96, CDH15, CDK11A, CDK5RAP2, CDKL5, CDON, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CFL2, CHAT, CHD2, CHD8, CHMP2B,
CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHSY1, CISD2, CISH, CLCN1, CLCN2, CLCNKA,
CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CNBP, CNTN1, CNTNAP2, CNTNAP4, COA5, COG1, COG4, COG5, COG6,
COG7, COG8, COL18A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COX10, COX15, COX6B1, CPA6,
CPT2, CR1, CRADD, CRBN, CREBBP, CRYAB, CSF1R, CSF2RB, CST3, CSTB, CTC1, CTDP1, CTNNB1, CTSD, CUL4B, CYP11B2,
CYP27A1, CYP7B1, DARC, DARS2, DBT, DCAF17, DCTN1, DCX, DDOST, DES, DGUOK, DHCR7, DHH, DIAPH3, DKC1, DLD,
DLG3, DMD, DNAH9, DNAJB2, DNAJC19, DNAJC5, DNAJC6, DNM1L, DNM2, DNMT1, DOCK8, DOK7, DOLK, DPAGT1,
DPM1, DPM3, DRD2, DRD3, DSC3, DST, DTNBP1, DUX4, DYNC1H1, DYNC2H1, DYRK1A, EARS2, EBP, EDN3, EDNRB,
EFHC1, EFTUD2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4E, EIF4G1, ELOVL4, EMX2, ENTPD1, EP300,
EPB41L1, EPM2A, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ERLIN2, ESCO2, ETHE1, EXOSC3, F2, F5, FA2H, FADD, FAM126A,
FAM134B, FANCB, FASTKD2, FBXO7, FCGR2B, FGA, FGD1, FGD4, FGF10, FGF14, FGFR1, FGFR2, FGFR3, FH, FHL1, FIG4,
FKRP, FKTN, FLNA, FLVCR1, FLVCR2, FOLR1, FOXG1, FOXP1, FOXP2, FOXP3, FOXRED1, FREM1, FRG1, FRMD7, FTL, FTO,
FTSJ1, FUS, FXN, FZD9, GAA, GABRA1, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GAMT, GAN, GARS, GATM,
GBA, GBE1, GCH1, GCSH, GDAP1, GDI1, GDNF, GFER, GFM1, GFPT1, GIGYF2, GJB1, GJB3, GJC2, GK, GLB1, GLDC, GLI2,
GLI3, GLRA1, GLRB, GM2A, GNPAT, GNS, GOSR2, GP1BA, GPC3, GPR143, GPR56, GPR98, GRIA3, GRIK2, GRIN1, GRIN2A,
GRIN2B, GRIP1, GRM1, GRN, GSN, GUSB, HADHA, HADHB, HCCS, HDAC4, HDAC8, HEPACAM, HERC2, HESX1, HEXA,
HEXB, HFE, HGSNAT, HK1, HMGCS2, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HRAS, HSD17B10, HSD17B4,
HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, HTRA2, HTT, HUWE1, HYAL1, ICAM1, ICK, IDS, IDUA, IER3IP1, IFRD1, IFT140,
IGBP1, IGF1, IGHMBP2, IKBKAP, IKBKG, IL11RA, IL1RAPL1, IL1RN, IL4, INF2, INS, IQSEC2, IRX5, ITM2B, ITPR1, KANK1,
KARS, KAT6B, KCNA1, KCNC3, KCND3, KCNE1L, KCNJ1, KCNJ10, KCNJ11, KCNK18, KCNK9, KCNMA1, KCNQ2, KCNQ3,
KCTD7, KDM5C, KDM6A, KIAA0196, KIAA0226, KIAA1279, KIAA2022, KIF11, KIF1A, KIF1B, KIF21A, KIF5A, KIF7, KIRREL3,
KMT2D, KRAS, KRIT1, KRT5, L1CAM, LAMA2, LAMB1, LAMB2, LAMP2, LARGE, LBR, LGI1, LHX4, LINS, LITAF, LMBRD1,
LMNA, LMNB1, LPIN2, LRP2, LRPPRC, LRRK2, LRSAM1, LYZ, LZTFL1, MAGI2, MAGT1, MAN1B1, MAOA, MAPT, MARS2,
MASP1, MATR3, MBD5, MBTPS2, MCEE, MCPH1, MECP2, MED12, MED17, MED23, MED25, MEF2C, MET, MFN2, MFSD8,
MGAT2, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MOGS, MPDU1, MPDZ, MPI, MPV17, MPZ,
MRE11A, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTMR14, MTMR2, MTO1, MTPAP, MTR, MTRR, MUSK, MUT, MVK, MYCN,
MYF6, MYH14, MYH7, MYH9, MYO5A, MYOT, NAA10, NAGA, NAGLU, NAT8L, NBN, NDE1, NDN, NDP, NDRG1, NDST1,
NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4,
NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2,
NEB, NEFH, NEFL, NEU1, NF1, NFIX, NFU1, NGF, NHEJ1, NHLRC1, NHS, NIPA1, NIPBL, NKX2-1, NLGN3, NLGN4X, NLRP12,
NLRP3, NOD2, NOG, NOP56, NOS2, NOS3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NRG1, NRXN1,
NSD1, NSDHL, NSUN2, NTRK1, NTRK2, NUBPL, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPTN, ORC1, OTC, PAFAH1B1,
PAH, PAK3, PANK2, PARK2, PARK7, PAX6, PC, PCBD1, PCDH19, PCK2, PCNT, PDCD10, PDE8B, PDHA1, PDYN, PEX1,
PEX7, PFN1, PGK1, PGM1, PHF6, PHF8, PHOX2B, PHYH, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3CA, PIK3R2, PIK3R5,
PINK1, PLA2G6, PLCB1, PLEC, PLEKHG4, PLEKHG5, PLP1, PMM2, PMP22, PNKD, PNKP, PNPLA6, PNPO, POLG, POLG2,
POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PORCN, PPT1, PQBP1, PREPL, PRICKLE1, PRICKLE2, PRKAG2, PRKCG,
PRKCH, PRKRA, PRNP, PROP1, PRPH2, PRPS1, PRRT2, PRRX1, PRSS12, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTEN, PTF1A,
PTPN11, PTS, PUS1, PVRL1, QDPR, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB7A, RABGGTA, RAD21, RAD50,
RAF1, RAI1, RANBP2, RAPSN, RARS2, RBBP8, RBM10, RBM8A, REEP1, RELN, RET, RFT1, RIN2, RNASEH2A, RNASEH2B,
RNASEH2C, RNASET2, RNF135, RNF170, RNU4ATAC, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RTN2, RYR1,
SACS, SAMHD1, SBF2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2,
SDCCAG8, SDHA, SDHAF1, SEPSECS, SERPINI1, SETBP1, SETX, SGCE, SGSH, SH3TC2, SHANK2, SHH, SHOC2, SHROOM4,
SIGMAR1, SIX3, SIX6, SKI, SLC12A6, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC20A2, SLC25A12, SLC25A19, SLC25A22,
SLC25A3, SLC25A4, SLC2A1, SLC30A10, SLC33A1, SLC35A1, SLC35C1, SLC3A1, SLC4A1, SLC4A4, SLC5A7, SLC6A3,
SLC6A5, SLC6A8, SLC9A6, SLC9A9, SMARCA2, SMARCA4, SMARCAD1, SMARCB1, SMC1A, SMC3, SMN1, SMN2, SMPD1,
SMS, SNAP29, SNCA, SNCAIP, SNIP1, SNX3, SOBP, SOD1, SORL1, SOS1, SOX10, SOX3, SPAST, SPG11, SPG20, SPG21,
SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SRD5A3, SRPX2, ST3GAL3, ST3GAL5, STIL, STRADA, STXBP1, SUCLA2,
SUCLG1, SURF1, SYN1, SYNE1, SYNGAP1, SYP, SYT14, TACO1, TAF1, TAF2, TARDBP, TAS2R38, TAZ, TBC1D24, TBCE, TBP,
TBX1, TCF4, TCTN1, TCTN2, TDP1, TECR, TFAP2A, TFAP2B, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1,
TICAM1, TIMM8A, TIRAP, TK2, TLR3, TLR5, TMCO1, TMEM126A, TMEM138, TMEM165, TMEM216, TMEM237, TMEM67,
TMEM70, TMLHE, TNF, TNFSF4, TOR1A, TP63, TPK1, TPM3, TPP1, TRAF3, TRAPPC9, TREM2, TREX1, TRIM32, TRPM6,
TRPM7, TRPS1, TRPV4, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC8,
TTI2, TTPA, TTR, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, TUSC3, TWIST1, TYMP, TYROBP, UBA1, UBE2A, UBE3A,
UBQLN2, UCHL1, UMPS, UNC93B1, UPB1, UPF3B, UQCRB, UQCRQ, USP9X, VANGL1, VAPB, VAX1, VCP, VEGFA, VHL, VIPAS39, VLDLR, VPS13A, VPS13B, VPS35, VRK1, WDPCP, WDR45, WDR62, WDR81, WFS1, WNK1, WNT10A, WNT3, WNT5A,
WNT7A, WWOX, XBP1, XK, YAP1, YARS, YWHAE, ZBTB16, ZBTB18, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZFYVE27, ZIC2,
ZIC3, ZNF335, ZNF41, ZNF592, ZNF674, ZNF711, ZNF81
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
Test
code
L P
5262
L P*
V66.1_April2016
21
Panel name
CentoMito Comprehensive
Test
code
Genes
AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ABCD3, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL,
ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ADCK3, ADCK4, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2,
ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APOPT1, ATIC, ATP5A1, ATP5E, ATP7B, ATPAF2,
ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BRIP1, BTD, C10orf2, C12orf65, CA5A, CASP8, CAT,
CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COASY, COMT, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20,
COX4I2, COX6A1, COX6B1, COX7B, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRBN, CYB5A, CYB5R3, CYC1, CYCS, CYP11A1,
CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DECR1, DGUOK, DHCR24, DHODH, DHTKD1,
DIABLO, DLAT, DLD, DMGDH, DMPK, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, EHHADH, ELAC2, EPHX2, ETFA, ETFB,
ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FECH, FH, FKBP10, FOXRED1, FTH1, FXN, GARS, GATM, GCDH, GCSH, GDAP1,
GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPI, GPT2, GPX1, GRHPR, GSR, GTPBP3, HADH, HADHA,
HADHB, HARS2, HAX1, HCCS, HIBCH, HINT1, HK1, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4,
HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KARS, KIF1B, KRT5, L2HGDH, LARS2,
LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MAOA, MAOB, MARS2, MCCC1, MCCC2, MCEE, MFN2, MGME1, MICU1,
MIP, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22,
MSRB3, MTFMT, MTO1, MTPAP, MTRR, MUT, MUTYH, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12,
NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3,
NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NNT, NTHL1,
NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OTC, OXCT1, P4HB, PAM16, PANK2, PARK7, PC, PCCA, PCCB, PCK2, PDHA1,
PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PET100, PEX11B, PHYH, PINK1, PKLR, PNPLA8, PNPO, PNPT1, POLG,
POLG2, PPM1K, PPOX, PRODH, PTGS1, PTRF, PTRH2, PTS, PUS1, PYCR1, PYCR2, QDPR, RARS, RARS2, RDH11, RECQL4,
RMND1, RNASEH1, RNASEL, RPIA, RPL35A, RPS14,RRM2B, SARDH, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2,
SDHB, SDHC, SDHD, SECISBP2, SERAC1, SFXN4, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A13, SLC25A15,
SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC37A4, SLC9A6, SNAP29, SOD1, SOD2,
SPG7, SPR, SPTLC2, STAR, STOM, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TCIRG1, TIMM44, TIMM8A,
TK2, TMEM126A, TMEM70, TMLHE, TPI1, TPK1, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUFM, TXNRD2, TYMP, UNG, UQCC2,
UQCRB, UQCRC2, UQCRQ, VARS2, WDR81, XPNPEP3, YARS2 + complete coverage of mitochondrial genome
L P
5280
L P*
› Neurological Diseases
Disease
Gene
Test
code
OMIM Gene
46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
DHH
531
605423
Achalasia addisonianism alacrimia syndrome
AAAS
121
605378
Acrocallosal syndrome
KIF7
151
611254
Acyl-CoA peroxisomal oxidase deficiency
ACOX1
615
609751
Adrenoleukodystrophy, x-linked
ABCD1
4
300371
Adrenoleukodystrophy, x-linked
PLXNB3
2214
300214
Adrenoleukodystrophy/Adrenomyeloneuropathy
ABCD1
4
300371
SLC12A6
267
604878
Aicardi-Goutieres syndrome type 1
TREX1
616
606609
Aicardi-Goutieres syndrome type 2
RNASEH2B
617
610326
Aicardi-Goutieres syndrome type 3
RNASEH2C
618
610330
Aicardi-Goutieres syndrome type 4
RNASEH2A
619
606034
Aicardi-Goutieres syndrome type 5
SAMHD1
620
606754
Aicardi-Goutieres syndrome type 6
ADAR
86
146920
Aicardi-Goutieres syndrome type 7
IFIH1
2188
606951
Alexander disease
GFAP
621
137780
Allan-Herndon-Dudley syndrome
SLC16A2
268
300095
Allan-Herndon-Dudley syndrome
SLC16A2
268
300095
Al-Raqad syndrome
DCPS
2742
610534
Alzheimer disease type 1
APP
761
104760
Alzheimer disease type 2
APOE
18
107741
Alzheimer disease type 3
PSEN1
233
104311
Alzheimer disease type 4
PSEN2
234
600759
Alzheimers disease, early onset, autosomal dominant
SORL1
1286
602005
Alzheimers disease, RTN3 related
RTN3
2354
604249
ST3GAL5
764
604402
Amyloidosis
TTR
542
176300
Amyloidosis, finnish type
GSN
1958
137350
Amyotrophic lateral sclerosis risk factor
CHGB
645
118920
Amyotrophic lateral sclerosis type 1
SOD1
691
147450
Amyotrophic lateral sclerosis type 2, juvenile
ALS2
692
606352
Amyotrophic lateral sclerosis type 4
SETX
264
608465
Amyotrophic lateral sclerosis type 6
FUS
38
137070
Amyotrophic lateral sclerosis type 8
VAPB
693
605704
Amyotrophic lateral sclerosis type 9
ANG
694
105850
Amyotrophic lateral sclerosis type 10
TARDBP
287
605078
Amyotrophic lateral sclerosis type 11
FIG4
530
609390
Amyotrophic lateral sclerosis type 12
OPTN
205
602432
Amyotrophic lateral sclerosis type 14
VCP
1594
601023
Amyotrophic lateral sclerosis type 16
SIGMAR1
1624
601978
Agenesis of the corpus callosum with peripheral neuropathy
Amish infantile epilepsy syndrome
22
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
S D H P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Gene
Test
code
OMIM Gene
Amyotrophic lateral sclerosis type 17
CHMP2B
1623
609512
Amyotrophic lateral sclerosis type 18
PFN1
93
176610
Amyotrophic lateral sclerosis type 21
MATR3
737
164015
Amyotrophic lateral sclerosis with frontotemporal dementia
C9orf72
1241
614260
Amyotrophic lateral sclerosis, CREST related
SS18L1
1614
606472
Amyotrophic lateral sclerosis, susceptibility to
NEFH
1595
162230
Amyotrophic lateral sclerosis, VPS54 related
VPS54
1625
614633
UBQLN2
696
300264
SEPT9
543
604061
Angelman syndrome
chr. 15q11
91
Angelman syndrome
UBE3A
312
601623
Angelman-like syndrome
CDKL5
770
300203
Angelman-like syndrome
MECP2
163
300005
Arts syndrome
PRPS1
231
311850
Asperger syndrome susceptibility X-linked type 2
NLGN3
186
300336
Ataxia and muscle hypotonia
COX20
1794
614698
Ataxia telangiectasia like disorder
MRE11A
1151
600814
Ataxia, posterior column, with retinitis pigmentosa
FLVCR1
1590
609144
Ataxia, progressive seizures, mental deterioration, and hearing loss, MT-TV related
MT-TV
2555
590105
Ataxia-oculomotor apraxia type 1
APTX
573
606350
Ataxia-oculomotor apraxia type 2
SETX
264
608465
Ataxia-oculomotor apraxia type 3
PIK3R5
725
611317
Ataxia-telangiectasia
ATM
1859
607585
Attention deficit-hyperactivity disorder
DRD4
2101
126452
Attention deficit-hyperactivity disorder
DRD5
2102
126452
Autism spectrum disorder
AHNAK2
2212
608570
Autism spectrum disorder
ANKS3
2253
Autism spectrum disorder
BPIFA3
2251
Autism spectrum disorder
EN2
1796
131310
Autism spectrum disorder
RABGGTA
2252
601905
MXRA5
2213
Autism spectrum/ hyperactivity/ bipolar disorder, GRM7 related
GRM7
2754
604101
Autism susceptibility, X-linked type 1
NLGN3
186
300336
Autism susceptibility, X-linked type 2
NLGN4X
622
300427
Autism susceptibility, X-linked type 3
MECP2
163
300005
Autism susceptibility, X-linked type 4
PTCHD1
2703
300828
Autism susceptibility, X-linked type 5
RPL10
798
312173
Autism susceptibility, x-linked type 17
SHANK2
2034
603290
Autism, ATP1B4 related
ATP1B4
2242
Autism, AVPR1A related
AVPR1A
2368
Autism, C7orf43 related
C7orf43
2579
Disease
Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS
Amyotrophy hereditary neuralgic
Autism spectrum, MXRA5 related
Autism, CELF6 related
600821
CELF6
2404
EFCAB13
2475
Autism, FAAH2 related
FAAH2
2403
300654
Autism, FCRL6 related
FCRL6
2285
613562
Autism, GYG2 related
GYG2
2654
300198
Autism, IQCE related
IQCE
2644
Autism, MBD1 related
MBD1
2031
156535
Autism, NTNG1 related
NTNG1
2477
608818
Autism, OR13H1 related
OR13H1
2032
Autism, EFCAB13 related
Autism, OXTR related
Autism, PKHD1L1 related
Autism, RNF128 related
Autism, RRM1 related
Autism, SETD2 related
612681
OXTR
2367
167055
PKHD1L1
2027
607843
RNF128
2306
300439
RRM1
2508
SETD2
2383
612778
Autism, SLC22A9 related
SLC22A9
2646
607579
Autism, UNC13B related
UNC13B
2535
605836
Autism, ZNF778 related
ZNF778
2369
Autism/Mental retardation/Angelman syndrome, susceptibility to, ATP10A related
ATP10A
2645
605855
Basal ganglia and cerebellar atrophy with hypomethylation (DYT4)
TUBB4A
1359
602662
Bethlem myopathy
COL6A1
697
120220
Bethlem myopathy
COL6A2
698
120240
Bethlem myopathy
COL6A3
699
120250
Bethlem myopathy
COL12A1
1757
120320
PHF6
799
300414
ATP2A1
700
108730
Borjeson-Forssman-Lehmann syndrome
Brody myopathy
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
R
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
D
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
23
Disease
Gene
Test
code
OMIM Gene
Brunner syndrome
MAOA
800
309850
F5
375
612309
ASPA
626
608034
CTDP1
544
604927
RYR1
8005
180901
PHOX2B
740
603851
ASCL1
712
100790
Centronuclear myopathy type 1
MTMR14
496
611089
Centronuclear myopathy type 3
MYF6
613
159991
Centronuclear myopathy type 4
CCDC78
1108
614666
Cerebellar ataxia
CP
1591
117700
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3
CA8
2330
114815
Cerebellar ataxia with deafness and narcolepsy, autosomal recessive
DNMT1
878
126375
Cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2
WDR81
2195
614218
GBA2
1523
609471
CAMTA1
2515
611501
Cerebellar ataxia, SNX14 related
SNX14
2304
616105
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1
VLDLR
94
192977
Cerebral amyloid angiopathy
CST3
1871
604312
Cerebral palsy type 1, spastic quadriplegic
GAD1
2211
605363
Cerebral palsy type 2, spastic quadriplegic
KANK1
2294
607704
CYP27A1
627
606530
Cervical dystonia
CIZ1
757
611420
CHILD syndrome
NSDHL
202
300275
Chorea, hereditary benign
NKX2-1
551
600635
Choreoacanthocytosis
VPS13A
1445
605978
CK syndrome
NSDHL
202
300275
CMT1A
PMP22
219
601097
CMT1B
MPZ
169
159440
CMT1C
LITAF
510
603795
CMT1D
EGR2
511
129010
CMT1E
PMP22
219
601097
CMT1F
NEFL
180
162280
CMT2A1
KIF1B
513
605995
CMT2A2
MFN2
514
608507
CMT2B1
LMNA
158
150330
CMT2B2
MED25
516
610197
CMT2B
RAB7A
515
602298
CMT2C
TRPV4
517
605427
CMT2D
GARS
518
600287
CMT2E
NEFL
180
162280
CMT2F
HSPB1
135
602195
CMT2I
MPZ
169
159440
CMT2J
MPZ
169
159440
CMT2K
GDAP1
520
606598
CMT2L
HSPB8
136
608014
CMT2N
AARS
512
601065
CMT2O
DYNC1H1
1279
600112
CMT2P
LRSAM1
2674
610933
CMT4, CTDP1 related
CTDP1
544
604927
CMT4A
GDAP1
520
606598
CMT4B1
MTMR2
523
603557
CMT4B2
SBF2
524
607697
CMT4C
SH3TC2
525
608206
CMT4D
NDRG1
526
605262
CMT4E
EGR2
511
129010
CMT4E
MPZ
169
159440
CMT4F
PRX
528
605725
CMT4H
FGD4
529
611104
CMT4J
FIG4
530
609390
CMTDIF
GNB4
1539
610863
CMTRIB
KARS
2806
601421
CMTRIB
KARS
2806
601421
CMTRIB
KARS
2806
601421
CMTRID
COX6A1
2653
602072
CMTX1
GJB1
545
304040
Budd-Chiari syndrome
Canavan disease
Cataracts with facial dysmorphism and neuropathy
Central core disease
Central hypoventilation syndrome with or without Hirschsprung disease
Central hypoventilation syndrome, congenital
Cerebellar ataxia with spasticity
Cerebellar ataxia, nonprogressive, with mental retardation
Cerebrotendinous xanthomatosis
24
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SDR
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Gene
Test
code
OMIM Gene
CMTX4
AIFM1
1353
300169
CMTX5
PRPS1
231
311850
COACH syndrome
CC2D2A
628
612013
COACH syndrome
RPGRIP1L
1138
610937
COACH syndrome
TMEM67
301
609884
Coenzyme Q10 deficiency type 1
COQ2
577
609825
Coenzyme Q10 deficiency type 2
PDSS1
578
607429
Coenzyme Q10 deficiency type 3
PDSS2
579
610564
Coenzyme Q10 deficiency type 5
COQ9
580
612837
RPS6KA3
247
300075
Cohen syndrome
VPS13B
323
607817
Compton-North congenital myopathy
CNTN1
1237
600016
B3GALNT2
1536
610194
Convulsions, benign familial infantile, 3
SCN2A
255
182390
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
IGBP1
629
300139
Cortical dysplasia, complex, with other brain malformations, type 1
TUBB3
310
602661
Cortical dysplasia, complex, with other brain malformations, type 5
TUBB2A
2067
615101
CNTNAP2
768
604569
CFL1
2286
601442
SLC6A8
276
300036
Creatine phosphokinase, elevated serum
CAV3
701
601253
Creutzfeldt-Jakob disease
PRNP
227
176640
Cytochrome c oxidase 1 deficiency
MT-CO1
1738
516030
Cytochrome c oxidase 2 deficiency
MT-CO2
2357
516040
Cytochrome c oxidase 3 deficiency
MT-CO3
1739
516050
Danon disease
LAMP2
155
309060
Dejerine-Sottas disease
EGR2
511
129010
Dejerine-Sottas disease
GJB1
545
304040
Dejerine-Sottas disease
MPZ
169
159440
Dejerine-Sottas disease
PMP22
219
601097
Dejerine-Sottas disease
PRX
528
605725
Dementia, familial, British type
ITM2B
2623
603904
Dementia, familial, Danish type
ITM2B
2623
603904
Dementia, frontotemporal
GRN
762
138945
Dementia, frontotemporal
MAPT
763
157140
Dementia, frontotemporal
PSEN1
233
104311
Dementia, frontotemporal
TARDBP
287
605078
Dent disease type 2
OCRL
203
300535
Dentatorubral-pallidoluysian atrophy
ATN1
581
607462
Developmental delay and microcephaly, SLC1A4 related
SLC1A4
2689
600229
Developmental delay, GNAQ related
GNAQ
2140
600998
Developmental delay, KMT2C related
KMT2C
2499
606833
DI-CMTB
DNM2
546
602378
DI-CMTC
YARS
547
603623
DI-CMTD
MPZ
169
159440
Dravet syndrome
GABRG2
769
137164
Dravet syndrome
SCN2A
255
182390
Dravet syndrome, modifier of
SCN9A
258
603415
Dysautonomia, FRRS1L-related
FRRS1L
2305
604574
Dyskinesia, familial, with facial myokymia
ADCY5
2125
600293
PCDH11X
2033
300246
Dyssegmental dysplasia, Silverman-Handmaker type
HSPG2
137
142461
Dystonia juvenile-onset
ACTB
779
102630
SPR
552
182125
TIMM8A
298
300356
DYT1
TOR1A
553
605204
DYT2
HPCA
2884
142622
DYT3
TAF1
554
313650
DYT4
TUBB4A
1359
602662
DYT5A
GCH1
555
600225
DYT6
THAP1
556
609520
DYT8
SLC2A1
193
138140
DYT10
PRRT2
558
614386
DYT11
DRD2
2276
126450
DYT11
SGCE
559
604149
DYT12
ATP1A3
560
182350
Coffin-Lowry syndrome
Congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan
Cortical dysplasia-focal epilepsy syndrome
Corticobasal Degeneration, CFL1 related
Creatine deficiency syndrome X-linked
Dyslexia
Dystonia, DOPA-responsive, autosomanl recessive
Dystonia-deafness syndrome
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D R H P*
S
P*
S
P*
S
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SDR
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
25
Gene
Test
code
OMIM Gene
DYT16
PRKRA
561
603424
DYT18
SLC2A1
193
138140
DYT24
ANO3
85
610110
DYT25
GNAL
84
139312
Early infantile epileptic encephalopathy type 1
ARX
24
300382
Early infantile epileptic encephalopathy type 2
CDKL5
770
300203
Early infantile epileptic encephalopathy type 3
SLC25A22
771
609302
Early infantile epileptic encephalopathy type 4
STXBP1
772
602926
Early infantile epileptic encephalopathy type 5
SPTAN1
773
182810
Early infantile epileptic encephalopathy type 6
SCN1A
253
182389
Early infantile epileptic encephalopathy type 7
KCNQ2
149
602235
Early infantile epileptic encephalopathy type 8
ARHGEF9
21
300429
Early infantile epileptic encephalopathy type 9
PCDH19
208
300460
Early infantile epileptic encephalopathy type 10
PNKP
774
605610
Early infantile epileptic encephalopathy type 11
SCN2A
255
182390
Early infantile epileptic encephalopathy type 12
PLCB1
775
607120
Early infantile epileptic encephalopathy type 13
SCN8A
624
600702
Early infantile epileptic encephalopathy type 14
KCNT1
89
608167
Early infantile epileptic encephalopathy type 15
ST3GAL3
2676
606494
Early infantile epileptic encephalopathy type 16
TBC1D24
783
613577
Early infantile epileptic encephalopathy type 19
GABRA1
673
137160
Early infantile epileptic encephalopathy type 20
PIGA
2238
311770
Early infantile epileptic encephalopathy type 21
NECAP1
2673
611623
Early infantile epileptic encephalopathy type 23
DOCK7
2672
615730
Early infantile epileptic encephalopathy type 24
HCN1
2671
602780
Early infantile epileptic encephalopathy type 25
SLC13A5
2270
608305
Early infantile epileptic encephalopathy type 26
KCNB1
2494
600397
Early infantile epileptic encephalopathy type 27
GRIN2B
1600
138252
Early infantile epileptic encephalopathy type 28
WWOX
2472
605131
Early infantile epileptic encephalopathy type 29
AARS
512
601065
Early infantile epileptic encephalopathy type 30
SIK1
2669
605705
Early infantile epileptic encephalopathy type 31
DNM1
2667
602377
Early infantile epileptic encephalopathy type 32
KCNA2
2651
176262
Early infantile epileptic encephalopathy type 33
EEF1A2
2514
602959
Emery-Dreifuss muscular dystrophy type 1
EMD
702
300384
Emery-Dreifuss muscular dystrophy type 2
LMNA
158
150330
Emery-Dreifuss muscular dystrophy type 4
SYNE1
8007
608441
Emery-Dreifuss muscular dystrophy type 5
SYNE2
8008
608442
Emery-Dreifuss muscular dystrophy type 6
FHL1
1249
300163
Encephalomyopathy, mitochondrial, MT-TL2 related
MT-TL2
1313
590055
Encephalomyopathy, mitochondrial, MT-TR related
MT-TR
2563
590005
Encephalopathy acute necrotizing type 1
RANBP2
630
601181
Encephalopathy lethal, due to defective mitochondrial peroxisomal fission
DNM1L
1439
603850
Encephalopathy mitochondrial
VDAC1
1596
604492
Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase
deficiency
COX10
1367
602125
Disease
Encephalopathy neonatal severe
MECP2
163
300005
Encephalopathy thiamine-responsive
SLC19A3
270
606152
Encephalopathy, familial, with neuroserpin inclusion bodies
SERPINI1
2063
602445
Encephalopathy, mitochondrial, MT-TW related
MT-TW
2557
590095
Endplate acetylcholinesterase deficiency
COLQ
704
603033
Epidermolysis bullosa simplex with muscular dystrophy
PLEC
705
601282
Epidermolysis bullosa simplex, autosomal recessive
DST
1263
113810
Epilepsy with neurodevelopmental defects
GRIN2A
1599
138253
Epilepsy, childhood absence type 2
GABRG2
769
137164
Epilepsy, childhood absence type 4, susceptibility to
GABRA1
673
137160
Epilepsy, childhood absence type 5
GABRB3
796
137192
Epilepsy, childhood absence type 6
CACNA1H
662
607904
Epilepsy, childhood absence, JRK related
JRK
904
603210
Epilepsy, familial focal with variable foci
DEPDC5
1617
614191
Epilepsy, familial temporal lobe type 1
LGI1
765
604619
Epilepsy, familial temporal lobe type 5
CPA6
879
609562
Epilepsy, familial temporal lobe type 7
RELN
63
600514
Epilepsy, focal, SCN3A related
SCN3A
2399
182391
Epilepsy, HCN2 related
HCN2
2495
602781
SPATA5
2807
613940
Epilepsy, hearing loss, and mental retardation syndrome
26
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S
P*
S
P*
SD
P*
S
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Gene
Test
code
OMIM Gene
Epilepsy, idiopathic generalized type 10
GABRD
778
137163
Epilepsy, idiopathic generalized type 11
CLCN2
1094
600570
Epilepsy, idiopathic generalized type 12
SLC2A1
193
138140
Epilepsy, juvenile absence type 1
EFHC1
897
608815
Epilepsy, nocturnal frontal lobe
KCNT1
89
608167
Epilepsy, nocturnal frontal lobe type 1
CHRNA4
766
118504
Epilepsy, nocturnal frontal lobe type 3
CHRNB2
780
118507
Epilepsy, nocturnal frontal lobe type 4
CHRNA2
767
118502
Epilepsy, progressive myoclonic 4, with or without renal failure
SCARB2
1976
602257
PRICKLE2
2549
608501
Epilepsy, X-linked, with learning disabilities and behavior disorders
SYN1
801
313440
Epileptic encephalopathy, childhood-onset
CHD2
1902
602119
MAPK10
1592
602897
Episodic ataxia type 1
KCNA1
582
176260
Episodic ataxia type 2
CACNA1A
583
601011
Episodic ataxia type 5
CACNB4
584
601949
Episodic ataxia type 6
SLC1A3
585
600111
Episodic pain syndrome type 2, familial
SCN10A
2264
604427
Episodic pain syndrome type 3, familial
SCN11A
2265
604385
Erythermalgia, primary
SCN9A
258
603415
Ethylmalonic encephalopathy
ETHE1
967
608451
Facial paresis type 3
HOXB1
1781
142968
FAT1
2578
600976
Familial hemiplegic migraine type 1
CACNA1A
583
601011
Familial hemiplegic migraine type 2
ATP1A2
587
182340
Familial hemiplegic migraine type 3
SCN1A
253
182389
Familial infantile myoclonic epilepsy
TBC1D24
783
613577
PRNP
227
176640
FG syndrome type 1
MED12
164
300188
FG syndrome type 2
FLNA
803
300017
FG syndrome type 4
CASK
804
300172
Filaminopathy
FLNC
708
102565
Fragile X syndrome
FMR1
588
309550
Fragile X tremor/ataxia syndrome
FMR1
588
309550
Friedreich ataxia
FXN
589
606829
Frontometaphyseal dysplasia
FLNA
803
300017
FUCA1
197
612280
FKTN
709
607440
Gaze palsy, horizontal, with progressive scoliosis
ROBO3
2231
608630
Generalized epilepsy and paroxysmal dyskinesia
KCNMA1
784
600150
Generalized epilepsy with febrile seizures plus type 1
SCN1B
254
600235
Generalized epilepsy with febrile seizures plus type 2
SCN1A
253
182389
Generalized epilepsy with febrile seizures plus type 3
GABRG2
769
137164
Generalized epilepsy with febrile seizures plus type 5
GABRD
778
137163
Generalized epilepsy with febrile seizures plus type 7
SCN9A
258
603415
Gerstmann-Straussler disease
PRNP
227
176640
Giant axonal neuropathy
GAN
548
605379
SLC2A1
193
138140
Glycine encephalopathy
AMT
1455
238310
Glycine encephalopathy
GCSH
632
238330
Glycosylation disorde type 2A
MGAT2
165
602616
Glycosylation disorde type 2C
SLC35C1
274
605881
Glycosylation disorder type 1C
ALG6
15
604566
Glycosylation disorder type 1E
DPM1
412
603503
Glycosylation disorder type 1J
DPAGT1
634
191350
Glycosylation disorder type 1M
DOLK
414
610746
Glycosylation disorder type 2D
B4GALT1
316
137060
Glycosylation disorder type 2E
COG7
198
606978
Glycosylation disorder type 2F
SLC35A1
273
605634
Glycosylation disorder type 2G
COG1
416
606973
Glycosylation disorder type 2H
COG8
417
606979
GM1-gangliosidosis
GLB1
127
611458
RAB27A
236
603868
Hereditary motor and sensory neuropathy, Okinawa type
TFG
2593
602498
Hereditary myopathy with early respiratory failure
TTN
8009
188840
Heterotopia, periventricular, ED variant
FLNA
803
300017
Epilepsy, progressive myoclonic type 5
Epileptic encephalopathy, Lennox-Gastaut type
Facioscapulohumeral dystrophy-like phenotype, FAT1 related
Fatal familial imsomnia
Fucosidosis
Fukuyama congenital muscular dystrophy
GLUT1 deficiency syndrome type 1
Griscelli syndrome type 2
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SDR
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D R H P*
SD
P*
SD
P*
SD
P*
SD
P*
SDR
P*
SDR
P*
SDR
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D R H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
H P*
SD
P*
V66.1_April2016
27
Disease
Test
code
OMIM Gene
Heterotopia, periventricular, X-linked dominant
FLNA
803
300017
Hippocampal longterm potentiation, RFN39 related
RNF39
2082
607524
Hoyeraal-Hreidarsson syndrome
DKC1
810
300126
HSAN1
SPTLC1
532
605712
HSAN2A
WNK1
533
605232
HSAN2B
FAM134B
534
613114
HSAN3
IKBKAP
535
603722
HSAN4
NTRK1
536
191315
HSAN5
NGF
537
162030
HSAN8
PRDM12
2851
616458
HSN2C
KIF1A
150
601255
HTT
591
613004
ZDHHC17
2293
607799
Huntington disease-like type 1
PRNP
227
176640
Huntington disease-like type 2
JPH3
592
605268
Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2
ARX
24
300382
L1CAM
153
308840
Hydrocephalus, nonsyndromic, autosomal recessive type 1
CCDC88C
2052
611204
Hydrocephalus, nonsyndromic, autosomal recessive type 2
MPDZ
2051
603785
Hyperekplexia
ARHGEF9
21
300429
Hyperekplexia
GLRA1
787
138491
Hyperekplexia
GLRB
788
138492
Hyperekplexia
SLC6A5
789
604159
Hyperkalemic periodic paralysis
SCN4A
256
603967
CACNA1S
710
114208
Hypomyelination with brainstem and spinal cord involvement and leg spasticity
DARS
2766
603084
Inclusion body myopathy
GNE
129
603824
Inclusion body myopathy
MYH2
2275
160740
Infantile neuroaxonal dystrophy type 1
PLA2G6
570
603604
Insensitivity to pain, channelopathy-associated
SCN9A
258
603415
Intellectual disability nonsyndromic
CUX2
1947
610648
CIC
2120
612082
CNKSR2
2449
300724
Intellectual disability, TBR1 related
TBR1
2822
604616
Intestinal pseudoobstraction, neuronal
FLNA
803
300017
Jensen syndrome
TIMM8A
298
300356
Joubert syndrome type 1
INPP5E
639
613037
Joubert syndrome type 2
TMEM216
640
613277
Joubert syndrome type 3
AHI1
641
608894
Joubert syndrome type 4
NPHP1
190
607100
Joubert syndrome type 5
CEP290
642
610142
Joubert syndrome type 6
TMEM67
301
609884
Joubert syndrome type 7
RPGRIP1L
1138
610937
Joubert syndrome type 8
ARL13B
643
608922
Joubert syndrome type 9
CC2D2A
628
612013
Joubert syndrome type 10
OFD1
204
300170
Joubert syndrome type 13
TCTN1
1877
609863
Joubert syndrome type 14
TMEM237
1867
614423
Joubert syndrome type 15
CEP41
636
610523
Joubert syndrome type 16
TMEM138
1282
614459
Joubert syndrome type 17
C5orf42
637
614571
Joubert syndrome type 18
TCTN3
2200
613847
Joubert syndrome type 20
TMEM231
1529
614949
Joubert syndrome type 21
CSPP1
2131
611654
Joubert syndrome type 23
KIAA0586
2801
610178
Joubert syndrome, EXOC8 related
EXOC8
1955
615283
Joubert syndrome, EXOSC8 related
EXOSC8
1219
606019
Kabuki syndrome type 2
KDM6A
720
300128
FAM111A
2046
615292
King-Denborough syndrome
RYR1
8005
180901
Kohlschutter Tonz syndrome
ROGDI
638
614574
Krabbe disease
GALC
437
606890
Leigh syndrome
BCS1L
1423
603647
Leigh syndrome
COX15
1368
603646
Leigh syndrome
FOXRED1
1430
613622
Leigh syndrome
NDUFA2
1378
602137
Huntington disease
Huntington disease, ZDHHC17 related
Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction
Hypokalemic periodic paralysis type 1
Intellectual disability nonsyndromic, CIC related
Intellectual disability nonsyndromic, CNKSR2 related
Kenny-Caffey syndrome type 2
28
Gene
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
R
P*
SD
P*
S D R H P*
R
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Gene
Test
code
OMIM Gene
Leigh syndrome
NDUFA9
1964
603834
Leigh syndrome
NDUFA10
1376
603835
Leigh syndrome
NDUFAF1
41
606934
Leigh syndrome
NDUFAF2
1379
609653
Leigh syndrome
NDUFAF3
42
612911
Leigh syndrome
NDUFAF6
1366
612392
Leigh syndrome
NDUFS3
1383
603846
Leigh syndrome
NDUFS4
1384
602694
Leigh syndrome
NDUFS7
1387
601825
Leigh syndrome
NDUFS8
1388
602141
Leigh syndrome
NUBPL
43
613621
Leigh syndrome and mitochondrial encephalopathy
ACAD9
1352
611103
Leigh syndrome due to COX deficiency
SURF1
1428
185620
Leigh syndrome due to mitochondrial complex I deficiency
MT-ND3
646
516002
Leigh syndrome due to mitochondrial complex I deficiency
MT-ND5
1315
516005
Leigh syndrome due to mitochondrial complex I deficiency
MT-ND6
1316
516006
Leigh syndrome due to mitochondrial complex I deficiency
NDUFA12
2282
614530
Leigh syndrome due to mitochondrial complex I deficiency, NDUFA13 related
NDUFA13
40
609435
LIPT1
2364
610284
PC
519
608786
Leigh syndrome due to the mitochondrial complex IV deficiency
TACO1
1408
612958
Leigh syndrome, French-Canadian type
LRPPRC
1441
607544
Leigh syndrome, X-linked
PDHA1
211
300502
Lesch-Nyham syndrome
HPRT1
812
308000
Leukodystrophy demyelinating adult-onset, autosomal dominant
LMNB1
647
150340
Leukodystrophy hypomyelinating
GJC2
508
608803
Leukodystrophy hypomyelinating type 3
AIMP1
752
603605
Leukodystrophy hypomyelinating type 4
HSPD1
495
118190
Leukodystrophy hypomyelinating type 5
FAM126A
1602
610531
Leukodystrophy hypomyelinating type 7
POLR3A
644
614258
Leukodystrophy hypomyelinating type 8
POLR3B
782
614366
Leukodystrophy hypomyelinating type 9
RARS
2811
107820
Leukodystrophy with dysmyelination and spastic paraparesis with or without dystonia (SPG35)
FA2H
196
611026
DARS2
649
610956
SCP2
1346
184755
Leukoencephalopathy with vanishing white matter
EIF2B1
650
606686
Leukoencephalopathy with vanishing white matter
EIF2B2
651
606454
Leukoencephalopathy with vanishing white matter
EIF2B3
652
606273
Leukoencephalopathy with vanishing white matter
EIF2B4
653
606687
Leukoencephalopathy with vanishing white matter
EIF2B5
654
603945
RNASET2
797
612944
Leukoencephalopathy, diffuse hereditary, with spheroids
CSF1R
1284
164770
Leukoencephalopathy, progressive, with ovarian failure
AARS2
2607
612035
Limb-girdle muscular dystrophy, autosomal dominant type 1A
MYOT
711
604103
Limb-girdle muscular dystrophy, autosomal dominant type 1B
LMNA
158
150330
Limb-girdle muscular dystrophy, autosomal dominant type 1C
CAV3
701
601253
Limb-girdle muscular dystrophy, autosomal dominant type 1E
DNAJB6
1285
611332
Limb-girdle muscular dystrophy, autosomal recessice type 2F
SGCD
265
601411
Limb-girdle muscular dystrophy, autosomal recessive type 2A
CAPN3
713
114240
Limb-girdle muscular dystrophy, autosomal recessive type 2B
DYSF
714
603009
Limb-girdle muscular dystrophy, autosomal recessive type 2C
SGCG
715
608896
Limb-girdle muscular dystrophy, autosomal recessive type 2D
SGCA
716
600119
Limb-girdle muscular dystrophy, autosomal recessive type 2E
SGCB
717
600900
Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G
TCAP
289
604488
Limb-girdle muscular dystrophy, autosomal recessive type 2H
TRIM32
307
602290
Limb-girdle muscular dystrophy, autosomal recessive type 2I
FKRP
718
606596
Limb-girdle muscular dystrophy, autosomal recessive type 2J
TTN
8009
188840
Limb-girdle muscular dystrophy, autosomal recessive type 2K
POMT1
223
607423
Limb-girdle muscular dystrophy, autosomal recessive type 2L
ANO5
719
608662
Limb-girdle muscular dystrophy, autosomal recessive type 2M
FKTN
709
607440
Limb-girdle muscular dystrophy, autosomal recessive type 2N
POMT1
223
607423
Limb-girdle muscular dystrophy, autosomal recessive type 2S
TRAPPC11
2505
614138
Limb-girdle muscular dystrophy, autosomal recessive type 12C
POMK
2639
615247
Lissencephaly type 4 with microcephaly
NDE1
1117
609449
Lissencephaly/Subcortical laminal heteropia, X-linked
DCX
813
300121
Lowe oculocerebrorenal syndrome
OCRL
203
300535
Disease
Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related
Leigh syndrome due to pyruvate carboxylase deficiency
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Leukoencephalopathy with dystonia and motor neuropathy
Leukoencephalopathy, cystic without megalencephaly
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
S
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
29
Disease
Major affective disorder
Test
code
OMIM Gene
CUTL2
1917
610648
CACNA1S
710
114208
Mandibulofacial dysostosis with microcephaly
EFTUD2
1103
603892
Marden-Walker syndrome
PIEZO2
2397
613629
MASA syndrome
L1CAM
153
308840
XK
2208
314850
MLC1
655
605908
HEPACAM
1089
611642
MT-TL1
1317
590050
FLNA
803
300017
ATP8A2
1530
605870
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CASK
804
300172
Mental retardation non-syndromic
ELK1
833
311040
Mental retardation non-syndromic
KLF8
834
300286
Mental retardation non-syndromic
NXF5
835
300319
Mental retardation non-syndromic
ZCCHC12
836
300701
WDR81
2195
614218
ATRX
27
300032
FOXP1
656
605515
SMARCA1
2259
300012
Mental retardation X-linked, syndromic, Claes-Jensen type
KDM5C
852
314690
Mental retardation X-linked, syndromic, Lubs type
MECP2
163
300005
Mental retardation X-linked, Turner type
HUWE1
853
300697
Mental retardation, autosomal dominant type 1
MBD5
2204
611472
Mental retardation, autosomal dominant type 2
DOCK8
1782
611432
Mental retardation, autosomal dominant type 5
SYNGAP1
1932
603384
Mental retardation, autosomal dominant type 6
GRIN2B
1600
138252
Mental retardation, autosomal dominant type 7
DYRK1A
2634
600855
Mental retardation, autosomal dominant type 8
GRIN1
2365
138249
Mental retardation, autosomal dominant type 9
KIF1A
150
601255
Mental retardation, autosomal dominant type 12
ARID1B
1554
614556
Mental retardation, autosomal dominant type 13
TRAPPC9
1918
611966
Mental retardation, autosomal dominant type 14
ARID1A
1508
603024
Mental retardation, autosomal dominant type 15
SMARCB1
1555
601607
Mental retardation, autosomal dominant type 16
SMARCA4
1556
603254
Mental retardation, autosomal dominant type 17
PACS1
2879
607492
Mental retardation, autosomal dominant type 18
GATAD2B
2479
614998
Mental retardation, autosomal dominant type 19
CTNNB1
1826
116806
Mental retardation, autosomal dominant type 20
MEF2C
1603
600662
Mental retardation, autosomal dominant type 23
SETD5
2903
615743
Mental retardation, autosomal dominant type 24
DEAF1
2759
602635
Mental retardation, autosomal dominant type 25
AHDC1
2342
615790
Mental retardation, autosomal dominant type 27
SOX11
2823
600898
Mental retardation, autosomal dominant type 28
ADNP
2400
611386
Mental retardation, autosomal dominant type 31
PURA
2415
600473
Mental retardation, autosomal dominant type 32
KAT6A
2813
601408
Mental retardation, autosomal dominant type 37
POGZ
2791
614787
Mental retardation, autosomal dominant type 38
EEF1A2
2514
602959
Mental retardation, autosomal recessive type 2
CRBN
2609
609262
Mental retardation, autosomal recessive type 3
CC2D1A
1914
610055
Mental retardation, autosomal recessive type 5
NSUN2
1119
610916
Mental retardation, autosomal recessive type 7
TUSC3
2395
601385
Mental retardation, autosomal recessive type 12
ST3GAL3
2676
606494
Mental retardation, autosomal recessive type 14
TECR
2243
610057
Mental retardation, autosomal recessive type 15
MAN1B1
2192
604346
Mental retardation, autosomal recessive type 18
MED23
1919
605042
Mental retardation, autosomal recessive type 27
LINS1
2825
610350
Mental retardation, autosomal recessive type 36
ADAT3
2600
615302
Mental retardation, autosomal recessive type 37
ANK3
2339
600465
Mental retardation, autosomal recessive type 38
HERC2
8002
605837
Mental retardation, autosomal recessive type 39
TTI2
1940
614426
Mental retardation, autosomal recessive type 41
KPTN
2341
615620
Mental retardation, autosomal recessive type 42
PGAP1
2362
611655
Mental retardation, autosomal recessive type 46
NDST1
2289
600853
Mental retardation, autosomal recessive type 49
GPT2
2734
138210
RAB40AL
1240
300405
Malignant hyperthermia type 5
McLeod syndrome with or without chronic granulomatous disease
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts 2A
MELAS syndrome, MT-TL1 related
Melnick-Needles syndrome
Mental retardation
Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2
Mental retardation with hypotonic facies syndrome, X-linked
Mental retardation with language impairment and autistic features
Mental retardation X-linked, SMARCA1 related
Mental retardation, X-linked
30
Gene
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Gene
Test
code
OMIM Gene
Mental retardation, X-linked syndromic, Christianson type
SLC9A6
825
300231
Mental retardation, X-linked syndromic, Nascimento-type
UBE2A
826
312180
ZDHHC9
827
300646
Mental retardation, X-linked type 1
IQSEC2
2604
300522
Mental retardation, X-linked type 3
HCFC1
2168
300019
Mental retardation, X-Linked type 13
MECP2
163
300005
Mental retardation, X-linked type 14
UPF3B
314
300298
Mental retardation, X-linked type 15
CUL4B
838
300304
Mental retardation, X-linked type 16
FGD1
315
300546
Mental retardation, X-linked type 17
HSD17B10
134
300256
Mental retardation, X-linked type 19
RPS6KA3
247
300075
Mental retardation, X-linked type 21
IL1RAPL1
837
300206
Mental retardation, X-linked type 29
ARX
24
300382
Mental retardation, X-linked type 30
PAK3
816
300142
Mental retardation, X-linked type 32
CLIC2
1618
300138
Mental retardation, X-linked type 41
GDI1
840
300104
Mental retardation, X-linked type 44
FTSJ1
841
300499
Mental retardation, X-linked type 45
ZNF81
817
314998
Mental retardation, X-linked type 46
ARHGEF6
842
300267
Mental retardation, X-linked type 58
TSPAN7
818
300096
Mental retardation, X-linked type 59
AP1S2
843
300629
Mental retardation, X-linked type 63
ACSL4
844
300157
Mental retardation, X-linked type 72
RAB39B
819
300774
Mental retardation, X-linked type 88
AGTR2
845
300034
Mental retardation, X-linked type 89
ZNF41
820
314995
Mental retardation, X-linked type 90
DLG3
846
300189
Mental retardation, X-linked type 91
ZDHHC15
821
300576
Mental retardation, X-linked type 92
ZNF674
822
300573
Mental retardation, X-linked type 93
BRWD3
847
300553
Mental retardation, X-linked type 94
GRIA3
848
305915
Mental retardation, X-linked type 95
MAGT1
160
300715
Mental retardation, X-linked type 96
SYP
823
313475
Mental retardation, X-linked type 97
ZNF711
824
314990
Mental retardation, X-linked type 99
USP9X
2808
300072
Mental retardation, X-linked type 101
MID2
2215
300204
ATP6AP2
849
300556
AFF2
850
300806
Mental retardation, x-linked, EFHC2 related
EFHC2
2284
300817
Mental retardation, X-linked, nonsyndromic
KIAA2022
851
300524
Mental retardation, X-linked, Siderius type
PHF8
815
300560
Mental retardation, X-linked, Snyder-Robinson type
SMS
2300
300105
OPHN1
828
300127
Mental retardation, X-linked, with isolated growth hormone deficiency
SOX3
280
313430
MERRF syndrome, MT-TK related
MT-TK
657
590060
MERRF syndrome, MT-TK related
MT-TK
657
590060
MERRF syndrome, MT-TK related
MT-TK
657
590060
MERRF syndrome, MT-TP related
MT-TP
658
590075
MERRF syndrome, MT-TP related
MT-TP
658
590075
MERRF syndrome, MT-TP related
MT-TP
658
590075
MERRF/MELAS overlap syndrome, MT-TS1 related
MT-TS1
1319
590080
MERRF/MELAS overlap syndrome, MT-TS2 related
MT-TS2
1320
590085
PSAP
232
176801
Methionine adenosyltransferase deficiency, autosomal recessive
MAT1A
2486
610550
Microcephaly-capillary malformation syndrome
STAMBP
1630
606247
Minicore myopathy with external ophthalmoplegia
RYR1
8005
180901
Mirror movements type 1
DCC
2611
120470
Mirror movements type 2
RAD51
1280
179617
Mirror movements type 3
DNAL4
2610
610565
Mitochondrial complex I deficiency
FOXRED1
1430
613622
Mitochondrial complex I deficiency
MT-ND1
1314
516000
Mitochondrial complex I deficiency
MT-ND2
1735
516001
Mitochondrial complex I deficiency
MT-ND3
646
516002
Mitochondrial complex I deficiency
MT-ND4L
1737
516004
Mitochondrial complex I deficiency
MT-ND4
1736
516003
Mitochondrial complex I deficiency
MT-ND5
1315
516005
Mitochondrial complex I deficiency
MT-ND6
1316
516006
Disease
Mental retardation, X-linked syndromic, Raymond type
Mental retardation, X-linked with epilepsy
Mental retardation, X-linked, associated with fragile site FRAXE
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Metachromatic leukodystrophy due to Saposin B deficiency
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
S
P*
S
P*
S
P*
S
P*
S
P*
S
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
S
P*
S
P*
S
P*
S
P*
S
P*
S
P*
V66.1_April2016
31
Disease
Test
code
OMIM Gene
Mitochondrial complex I deficiency
NDUFA1
831
300078
Mitochondrial complex I deficiency
NDUFA11
1377
612638
Mitochondrial complex I deficiency
NDUFAF1
41
606934
Mitochondrial complex I deficiency
NDUFAF3
42
612911
Mitochondrial complex I deficiency
NDUFAF4
1380
611776
Mitochondrial complex I deficiency
NDUFAF5
979
612360
Mitochondrial complex I deficiency
NDUFB3
1080
603839
Mitochondrial complex I deficiency
NDUFB3
1080
603839
Mitochondrial complex I deficiency
NDUFS1
1381
157655
Mitochondrial complex I deficiency
NDUFS2
1382
602985
Mitochondrial complex I deficiency
NDUFS4
1384
602694
Mitochondrial complex I deficiency
NDUFS6
1386
603848
Mitochondrial complex I deficiency
NDUFV1
1389
161015
Mitochondrial complex I deficiency
NDUFV2
1390
600532
MT-TN
2559
590010
Mitochondrial complex II deficiency
SDHAF1
1426
612848
Mitochondrial complex III deficiency
BCS1L
1423
603647
Mitochondrial complex III deficiency
TTC19
1411
613814
Mitochondrial complex III deficiency
UQCRB
47
191330
Mitochondrial complex III deficiency
UQCRC2
1531
191329
Mitochondrial complex III deficiency
UQCRQ
48
612080
Mitochondrial complex III deficiency, nuclear type 7
UQCC2
2873
614461
Mitochondrial complex IV deficiency
COX6B1
1369
124089
Mitochondrial complex IV deficiency
FASTKD2
1372
612322
Mitochondrial complex IV deficiency
MT-CO3
1739
516050
Mitochondrial complex IV deficiency
PET100
2862
614770
Mitochondrial complex V (ATP synthase) deficiency
MT-ATP6
1472
516060
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
ATPAF2
1354
608918
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TMEM70
1409
612418
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
ATP5E
980
606153
Mitochondrial complex V deficiency, nuclear type 4
ATP5A1
2681
164360
Mitochondrial Disorders, AKAP1 related
AKAP1
2476
602449
Mitochondrial DNA depletion syndrome
C10orf2
549
606075
Mitochondrial DNA depletion syndrome
DGUOK
721
601465
Mitochondrial DNA depletion syndrome
SUCLA2
284
603921
Mitochondrial DNA depletion syndrome
TK2
299
188250
Mitochondrial DNA depletion syndrome
TK2
299
188250
RRM2B
248
604712
POLG
220
174763
Mitochondrial DNA depletion syndrome type 6
MPV17
794
137960
Mitochondrial DNA depletion syndrome type 11
MGME1
2234
615076
Mitochondrial DNA depletion syndrome type 13
FBXL4
2233
605654
SUCLG1
1427
611224
Mitochondrial encephalomyopathy
MFF
1966
614785
Mitochondrial encephalomyopathy
MT-CYB
1522
516020
Mitochondrial myopathy and sideroblastic anemia type 1
PUS1
44
608109
Mitochondrial myopathy and sideroblastic anemia type 1
PUS1
44
608109
Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy
POLG
220
174763
Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy
TYMP
795
131222
TIMM21
2028
615180
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
ECHS1
2624
602292
Miyoshi muscular dystrophy type 3
ANO5
719
608662
Miyoshi myopathy
DYSF
714
603009
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT
2338
610272
Multiple mitochondrial dysfunctions syndrome type 1
NFU1
2312
608100
Multiple mitochondrial dysfunctions syndrome type 2
BOLA3
2313
613183
Multiple mitochondrial dysfunctions syndrome type 3
IBA57
2314
615316
Multiple mitochondrial dysfunctions syndrome type 4
ISCA2
2794
615317
Muscle hypertrophy
MSTN
723
601788
Muscle-eye-brain disease, POMK related
POMK
2639
615247
Muscular dystrophy type 1A
LAMA2
724
156225
Muscular dystrophy type 1C
FKRP
718
606596
Muscular dystrophy type 1D
LARGE
156
603590
Muscular dystrophy, Becker type
DMD
726
300377
Muscular dystrophy, congenital, LMNA related
LMNA
158
150330
Muscular dystrophy, congenital, megaconial type
CHKB
2668
612395
Mitochondrial complex I deficiency, MT-TN related
Mitochondrial DNA depletion syndrome 8B, MNGIE type
Mitochondrial DNA depletion syndrome type 4A
Mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria
Mitochondrial respiratory chain disease, TIMM21 related
32
Gene
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
V66.1_April2016
Disease
Muscular dystrophy, Duchenne type
Gene
Test
code
OMIM Gene
DMD
726
300377
Muscular dystrophy, limb-girdle type 2A
CAPN3
713
114240
Muscular dystrophy, limb-girdle, type 2Q
PLEC
705
601282
Muscular dystrophy, oculopharyngeal
PABPN1
728
602279
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
POMT2
760
607439
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1
1598
606822
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8
POMGNT2
2799
614828
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10
TMEM5
2716
605862
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
B4GAT1
2201
605517
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1
POMT1
223
607423
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2
POMT2
760
607439
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3
POMGNT1
1598
606822
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2
POMT2
760
607439
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3
POMGNT1
1598
606822
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9
DAG1
1597
128239
Muscular-skeletal disorder, CAPN1 related
CAPN1
2358
114220
Myasthenia congenital with tubular aggregates 1
GFPT1
1547
138292
Myasthenic syndrome associated with acetylcholine receptor deficiency
MUSK
62
601296
Myasthenic syndrome due to mutation in SCN4A
SCN4A
256
603967
Myasthenic syndrome fast channel congenital
CHRNA1
60
100690
Myasthenic syndrome slow-channel congenital
CHRNA1
60
100690
Myasthenic syndrome, congenital
AGRN
1546
103320
Myasthenic syndrome, congenital
CHAT
731
118490
Myasthenic syndrome, congenital
CHRNB1
732
100710
Myasthenic syndrome, congenital
CHRNE
730
100725
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
RAPSN
1228
601592
Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency
CHRND
61
100720
Myasthenic syndrome, fast-channel, congenital, type 3B
CHRND
61
100720
Myasthenic syndrome, slow channel, congenital, type 3A
CHRND
61
100720
Myoclonic dystonia
DRD2
2276
126450
Myoclonic epilepsy of Lafora
EPM2A
663
607566
Myoclonic epilepsy of Lafora
NHLRC1
184
608072
Myoclonus, familial cortical
NOL3
2548
605235
Myoglobinuria acute recurrent
LPIN1
562
605518
Myopathy due to Integrin 7A deficiency
ITGA7
733
600536
Myopathy with fiber-type disproportion
ACTA1
5
102610
Myopathy with fiber-type disproportion
SEPN1
263
606210
MEGF10
2744
612453
Myopathy, centronuclear
BIN1
735
601248
Myopathy, centronuclear
DNM2
546
602378
COL6A6
2380
Myopathy, desmin related, associated with mutation in the CRYAB gene
CRYAB
690
123590
Myopathy, distal type 1
MYH7
176
160760
Myopathy, distal type 4
FLNC
708
102565
Myopathy, distal with anterior tibial onset
DYSF
714
603009
Myopathy, distal with decreased Caveolin 3
CAV3
701
601253
Myopathy, early-onset with fatal cardiomyopathy
TTN
8009
188840
Myopathy, lactic acidosis, and sideroblastic anemia type 2
YARS2
49
610957
Myopathy, limb girdle with bone fragility
MTAP
975
156540
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental
delay
GFER
1405
600924
Myopathy, MT-TQ related
MT-TQ
1322
590030
Myopathy, myofibrillar type 6
BAG3
30
603883
DES
741
125660
Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related
CRYAB
690
123590
Myopathy, myofibrillar, ZASP related
LDB3
157
605906
Myopathy, tubular aggregate, type 1
STIM1
2391
605921
COL6A2
698
120240
Myosin storage myopathy
MYH7
176
160760
Myotilinopathy
MYOT
711
604103
Myotonia congenita
CLCN1
744
118425
Myotonic dystrophy type 1
DMPK
593
605377
Myotonic dystrophy type 1
DMPK
593
605377
Myotonic dystrophy type 2
CNBP
329
116955
Myotonic dystrophy type 2
CNBP
329
116955
Myotubular myopathy X-linked
MTM1
172
300415
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
Myopathy, COL6A6 related
Myopathy, myofibrillar, Desmin related
Myosclerosis, autosomal recessive
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SDR
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
S D H P*
S
H P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
R
P*
R
P*
R
P*
R
P*
SD
P*
V66.1_April2016
33
Gene
Test
code
OMIM Gene
Narcolepsy
HCRT
1894
602358
Nemaline myopathy type 1
TPM3
746
191030
NEB
8004
161650
Nemaline myopathy type 3
ACTA1
5
102610
Nemaline myopathy type 4
TPM2
306
190990
Nemaline myopathy type 5
TNNT1
747
191041
Nemaline myopathy type 6
KBTBD13
1166
613727
Nemaline myopathy type 7
CFL2
748
601443
Neonatal death due Leigh syndrome, MT-TV related
MT-TV
2555
590105
Neurodegeneration due to cerebral folate transport deficiency
FOLR1
1589
136430
Neurodegeneration with brain iron accululation type 5
WDR45
1889
300526
Neurodegeneration with brain iron accumulation type 4
C19orf12
1593
614297
Neurodegeneration with brain iron accumulation type 6
COASY
2325
609855
ADAM22
2059
603709
APC2
2010
612034
CNTNAP4
2022
610518
Neurodevelopmental disorder, CROCC related
CROCC
1922
615776
Neurodevelopmental disorder, FRMPD4 related
FRMPD4
2402
300838
Neurodevelopmental disorder, KCTD3 related
KCTD3
2344
613272
Neurodevelopmental disorder, MACF1 related
MACF1
2023
608271
Neurodevelopmental disorder, MTOR related
MTOR
2153
601231
NCAM1
2482
116930
Neurodevelopmental disorder, NGEF related
NGEF
2136
605991
Neurodevelopmental disorder, PIGQ related
PIGQ
2620
605754
Neurodevelopmental disorder, TUBB related
TUBB
2068
191130
ZNF311
2057
Neurodevelopmental malformation and microcephaly
DYNC1H1
1279
600112
Neurodevelopmental malformation and microcephaly
KIF2A
1628
602591
Neurodevelopmental malformation and microcephaly
KIF5C
1629
604593
Neurodevelopmental malformation and microcephaly
TUBG1
1627
191135
DES
741
125660
HINT1
1615
601314
Neuronal migration disorder
CTNNA2
1610
114025
Neuronal migration disorder
EOMES
1587
604615
Neuronal migration disorder
SPTBN5
2072
605916
Neuronal migration disorder
SRGAP2
1588
606524
Neuronopathy distal hereditary motor type 2A
HSPB8
136
608014
Neuronopathy distal hereditary motor type 2B
HSPB1
135
602195
Neuronopathy distal hereditary motor type 5
GARS
518
600287
Neuronopathy distal hereditary motor type 6
IGHMBP2
540
600502
Neuronopathy distal hereditary motor type 7B
DCTN1
541
601143
Neuronopathy X-linked distal hereditary motor
ATP7A
25
300011
Neuropathy sensor type 1E
DNMT1
878
126375
Neuropathy with liability to pressure palsies [HNPP]
PMP22
219
601097
Neuropathy with sensory ataxic, dysarthria and progressive external opthalmoplegia
C10orf2
549
606075
Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis
POLG
220
174763
Neuropathy, hereditary sensory and autonomic type 2
SCN9A
258
603415
Neuropathy, hereditary sensory, with spastic paraplegia
CCT5
2588
610150
Neuropathy, hereditary sensory, with spastic paraplegia
CCT5
2588
610150
PNPLA2
750
609059
Niemann-Pick disease type C1
NPC1
189
607623
Nonaka myopathy
GNE
129
603824
Norrie disease
NDP
319
300658
Occipital horn syndrome
ATP7A
25
300011
Opitz G syndrome
MID1
854
300552
Oral-facial-digital syndrome type 1
OFD1
204
300170
Pantothenate kinase-associated neurodegeneration
PANK2
665
606157
Paramyotonia congenita of von Eulenburg
SCN4A
256
603967
Parietal foramina type 2
ALX4
666
605420
PARK1 Parkinson
SNCA
563
163890
PARK2 Parkinson
PARK2
564
602544
PARK5 Parkinson
UCHL1
1797
191342
PARK6 Parkinson
PINK1
565
608309
PARK7 Parkinson
PARK7
566
602533
PARK8 Parkinson
LRRK2
567
609007
PARK9 Parkinson
ATP13A2
568
610513
Disease
Nemaline myopathy type 2, autosomal recessive
Neurodevelopmental disorder, ADAM22 related
Neurodevelopmental disorder, APC2-related
Neurodevelopmental disorder, CNTNAP4 related
Neurodevelopmental disorder, NCAM1 related
Neurodevelopmental disorder, ZNF311 related
Neurogenic scapuloperoneal syndrome, Kaeser type
Neuromyotonia and axonal neuropathy, autosomal recessive
Neutral lipid storage disease with myopathy
34
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Gene
Test
code
OMIM Gene
PARK13 Parkinson
HTRA2
569
606441
PARK14 Parkinson
PLA2G6
570
603604
PARK15 Parkinson
FBXO7
571
605648
PARK17 Parkinson
VPS35
572
601501
DNAJC6
1912
608375
PARK20 Parkinson
SYNJ1
1795
604297
PARK21 Parkinson
DNAJC13
2622
614334
MT-TT
2565
590090
Parkinsonism-Dystonia, infantile
SLC6A3
1281
126455
Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia
SLC2A1
193
138140
PNKD
557
609023
Partington syndrome
ARX
24
300382
Pelizaeus-Merzbacher disease
PLP1
217
300401
Pelizaeus-Merzbacher disease
SLC16A2
268
300095
GJC2
508
608803
SOX10
279
602229
ARFGEF2
1283
605371
PEX11B
939
603867
PEX3
680
603164
HSD17B4
1095
601860
Phosphoglycerate kinase 1 deficiency
PGK1
855
311800
Pick disease
PSEN1
233
104311
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
TREM2
671
605086
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
TYROBP
670
604142
Polyglucosan body myopathy type 1 with or without immunodeficiency
RBCK1
2329
610924
Polymicrogyria bilateral occipital
NR2E1
631
603849
Pompe disease
GAA
405
606800
Pontocerebellar hypoplasia type 1A
VRK1
672
602168
Pontocerebellar hypoplasia type 1B
EXOSC3
1006
606489
Pontocerebellar hypoplasia type 2A
TSEN54
1734
608755
Pontocerebellar hypoplasia type 2B
TSEN2
1990
608753
Pontocerebellar hypoplasia type 2C
TSEN34
1991
608754
Pontocerebellar hypoplasia type 2D
SEPSECS
2630
613009
Pontocerebellar hypoplasia type 2E
VPS53
2722
615850
Pontocerebellar hypoplasia type 4
TSEN54
1734
608755
Pontocerebellar hypoplasia type 6
RARS2
1436
611524
Pontocerebellar hypoplasia type 8
CHMP1A
1992
164010
Pontocerebellar hypoplasia, type 9
AMPD2
2584
102771
Pontocerebellar hypoplasia, type 10
CLP1
2631
608757
Porencephaly type 2
COL4A2
1431
120090
Potassium-aggravated myotonia
SCN4A
256
603967
chr. 15q11
91
Prader-Willi syndrome
NDN
1752
602117
Prader-Willi syndrome
SNRPN
1753
182279
Progressive external ophthalmoplegia with mitochondrial deletions autosomal recessive
POLG
220
174763
Progressive external ophthalmoplegia with mitochondrial deletions type 1
POLG
220
174763
Progressive external ophthalmoplegia with mitochondrial deletions type 2
SLC25A4
271
103220
Progressive external ophthalmoplegia with mitochondrial deletions type 3
C10orf2
549
606075
Progressive external ophthalmoplegia with mitochondrial deletions type 3
C10orf2
549
606075
Progressive external ophthalmoplegia with mitochondrial deletions type 4
POLG2
221
604983
Progressive external ophthalmoplegia with mitochondrial deletions type 5
RRM2B
248
604712
Progressive external ophthalmoplegia with mitochondrial deletions type 5
RRM2B
248
604712
Progressive external ophthalmoplegia with mitochondrial deletions type 5
RRM2B
248
604712
PRICKLE1
792
608500
Progressive myoclonus epilepsy type 3
KCTD7
791
611725
Progressive myoclonus epilepsy type 6
GOSR2
2547
604027
Progressive myoclonus epilepsy type 8
CERS1
2546
606919
ARX
24
300382
Psychomotor retardation
TANC1
1909
611397
Ptosis, congenital
ZFHX4
2804
606940
Pyridoxine-dependent epilepsy
ALDH7A1
10
107323
Pyruvate carboxylase deficiency
PC
519
608786
Renpenning syndrome
PQBP1
856
300463
Rett syndrome preserved speech variant
MECP2
163
300005
Rigid spine muscular dystrophy
SEPN1
263
606210
Rippling muscle disease
CAV3
701
601253
Disease
PARK19 Parkinson, juvenile-onset
Parkinson disease, susceptibility to, MT-TT related
Paroxysmal nonkinesigenic dyskinesia
Pelizeaus-Merzbacher-like disease type 1
Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease
Periventricular heterotopia with microcephaly
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder type 10A
Perrault syndrome
Prader-Willi syndrome
Progressive myoclonus epilepsy type 1A
Proud syndrome
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
D
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
V66.1_April2016
35
Gene
Test
code
OMIM Gene
Rolandic epilepsy, mental retardation, and speech dyspraxia
SRPX2
857
300642
Roussy-Levy syndrome
PMP22
219
601097
KIAA0226
1960
613516
Scapuloperoneal myopathy, MYH7 related
MYH7
176
160760
Schizophrenia, CALR related
CALR
2205
109091
Schizophrenia, CELSR2 related
CELSR2
2002
604265
Schizophrenia, GRID2 related
GRID2
2302
602368
NOTCH4
2121
164951
HSPG2
137
142461
TH
3
191290
Seizures, benign neonatal, type 1
KCNQ2
149
602235
Seizures, benign neonatal, type 2
KCNQ3
199
602232
SESAME syndrome
KCNJ10
832
602208
Sialuria, finish type
SLC17A5
269
604322
chr. 11p15
92
Disease
Salih ataxia
Schizophrenia, NOTCH4 related
Schwartz-Jampel syndrome
Segawa syndrome, autosomal recessive
Silver-Russell syndrome
Simpson-Golabi-Behmel syndrome type 1
GPC3
858
300037
Sjogren-Larsson syndrome
ALDH3A2
674
609523
Slowed nerve conduction velocity autosomanal dominant
ARHGEF10
550
608136
Smith-Magenis syndrome
RAI1
859
607642
Smith-Magenis syndrome, ULK2 related
ULK2
2320
613653
Spastic ataxia Charlevoix-Saguenay type
SACS
594
604490
Spastic ataxia type 1, autosomal dominant
VAMP1
1729
185880
Spastic ataxia type 2, autosomal recessive
KIF1C
2379
603060
Spastic ataxia type 3, autosomal recessive
MARS2
2678
609728
SPG1
L1CAM
153
308840
SPG2
PLP1
217
300401
SPG3A
ATL1
490
606439
SPG4
SPAST
491
604277
CYP7B1
350
603711
SPG6
NIPA1
492
608145
SPG7
SPG7
501
602783
SPG8
KIAA0196
493
610657
SPG10
KIF5A
494
602821
SPG11
SPG11
502
610844
SPG12
RTN2
1278
603183
SPG13
HSPD1
495
118190
SPG15
ZFYVE26
503
612012
SPG17
BSCL2
440
606158
SPG18
ERLIN2
2590
611605
SPG20
SPG20
504
607111
SPG21
SPG21
505
608181
SPG26
B4GALNT1
2587
601873
SPG28
DDHD1
2151
614603
SPG30
KIF1A
150
601255
SPG31
REEP1
497
609139
SPG33
ZFYVE27
498
610243
SPG35
FA2H
196
611026
SPG39
PNPLA6
507
603197
SPG42
SLC33A1
499
603690
SPG44
GJC2
508
608803
SPG45
NT5C2
2573
600417
SPG47
AP4B1
1803
607245
SPG48
AP5Z1
2322
613653
SPG49
TECPR2
2592
615000
SPG50
AP4M1
1069
602296
SPG51
AP4E1
2585
607244
SPG52
AP4S1
2586
607243
SPG53
VPS37A
2018
609927
SPG54
DDHD2
2589
615003
SPG56
CYP2U1
1728
610670
SPG57
TFG
2593
602498
SPG59, USP8 related
USP8
2597
603158
SPG60, WDR48 related
WDR48
2598
612167
SPG61
ARL6IP1
2572
607669
SPG62, ERLIN1 related
ERLIN1
2595
611604
SPG63
AMPD2
2584
102771
SPG5A
36
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
D
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
S D H P*
S D H P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
S D H P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Gene
Test
code
OMIM Gene
SPG64
ENTPD1
1908
601752
ARSI
2594
610009
FLRT1
2596
604806
ZFR
2599
615635
SPG72
REEP2
2591
609347
SPG72
REEP2
2591
609347
SPG73
CPT1C
2780
608846
Spheroid body myopathy
MYOT
711
604103
Spinal and bulbar muscular atrophy X-linked
AR
20
313700
Spinal muscular atrophy (SMA), NAIP related
NAIP
1972
600355
PLEKHG5
538
611101
Spinal muscular atrophy type 1
SMN1
754
600354
Spinal muscular atrophy type 2
SMN1
754
600354
Spinal muscular atrophy type 3, modifier of
SMN2
1921
601627
Spinal muscular atrophy type 3
SMN1
754
600354
Spinal muscular atrophy type 4
SMN1
754
600354
Spinal muscular atrophy type 5
DNAJB2
736
604139
Spinal muscular atrophy with progressive myoclonic epilepsy
ASAH1
391
613468
Spinal muscular atrophy, distal, X-linked
ATP7A
25
300011
Spinal muscular atrophy, lower extremity, autosomal dominant, type 1
DYNC1H1
1279
600112
Spinal muscular atrophy, lower extremity, autosomal dominant, type 2
BICD2
2014
609797
Spinocerebellar ataxia infantile-onset
C10orf2
549
606075
Spinocerebellar ataxia type 1, autosomal dominant
ATXN1
595
601556
Spinocerebellar ataxia type 1, X-linked
ATP2B3
2652
300014
Spinocerebellar ataxia type 2, autosomal dominant
ATXN2
596
601517
Spinocerebellar ataxia type 3, autosomal dominant
ATXN3
597
607047
Spinocerebellar ataxia type 4, autosomal dominant
PLEKHG4
1804
609526
Spinocerebellar ataxia type 5, autosomal dominant
SPTBN2
598
604985
Spinocerebellar ataxia type 6, autosomal dominant
CACNA1A
583
601011
Spinocerebellar ataxia type 7, autosomal dominant
ATXN7
600
607640
Spinocerebellar ataxia type 7, autosomal recessive
TPP1
1613
607998
Spinocerebellar ataxia type 8, autosomal dominant
ATXN8OS
601
613289
Spinocerebellar ataxia type 8, autosomal recessive
SYNE1
8007
608441
Spinocerebellar ataxia type 9, autosomal rececssive
ADCK3
575
606980
Spinocerebellar ataxia type 10, autosomal dominant
ATXN10
602
611150
Spinocerebellar ataxia type 10, autosomal recessive
ANO10
1806
613726
Spinocerebellar ataxia type 11, autosomal dominant
TTBK2
603
611695
Spinocerebellar ataxia type 12, autosomal dominant
PPP2R2B
604
604325
Spinocerebellar ataxia type 12, autosomal recessive
WWOX
2472
605131
Spinocerebellar ataxia type 13, autosomal dominant
KCNC3
605
176264
Spinocerebellar ataxia type 13, autosomal recessive
GRM1
1612
604473
Spinocerebellar ataxia type 14, autosomal dominant
PRKCG
606
176980
Spinocerebellar ataxia type 15, autosomal dominant
ITPR1
607
147265
Spinocerebellar ataxia type 17, autosomal dominant
TBP
288
600075
Spinocerebellar ataxia type 17, autosomal recessive
CWF19L1
2892
616120
Spinocerebellar ataxia type 18, autosomal dominant
IFRD1
608
603502
Spinocerebellar ataxia type 18, autosomal recessive
GRID2
2302
602368
Spinocerebellar ataxia type 21, autosomal dominant
TMEM240
2533
616101
Spinocerebellar ataxia type 22, autosomal dominant
KCND3
1611
605411
Spinocerebellar ataxia type 23, autosomal dominant
PDYN
609
131340
Spinocerebellar ataxia type 26, autosomal dominant
EEF2
2297
130610
Spinocerebellar ataxia type 27, autosomal dominant
FGF14
610
601515
Spinocerebellar ataxia type 28, autosomal dominant
AFG3L2
611
604581
Spinocerebellar ataxia type 29, autosomal dominant
ITPR1
607
147265
Spinocerebellar ataxia type 31, autosomal dominant
BEAN1
612
612051
Spinocerebellar ataxia type 35, autosomal dominant
TGM6
1857
613900
Spinocerebellar ataxia type 36, autosomal dominant
NOP56
1856
614154
Spinocerebellar ataxia with axonal neuropathy, autosomal recessive
TDP1
290
607198
Spinocerebellar ataxia with axonal neuropathy, autosomal recessive
TDP1
290
607198
SHROOM4
860
300579
PDE8B
623
603390
Temtamy syndrome
C12orf57
2129
615140
Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type
SLC25A19
487
606521
Thyrotoxic periodic paralysis type 1
CACNA1S
710
114208
Thyrotoxic periodic paralysis type 2
KCNJ18
2089
613236
LDB3
157
605906
SPG66, ARSI related
SPG68, FLRT1 related
SPG71, ZFR related
Spinal muscular atrophy distal, autosomal recessive type 4
Stocco dos Santos X-linked mental retardation syndrome
Striatal degeneration
Tibial muscular dystrophy, tardive
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SDR
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
R
P*
SD
P*
R
P*
R
P*
SD
P*
SD
P*
SDR
P*
R
P*
SD
P*
R
P*
S
P*
SD
P*
R
P*
SD
P*
SD
P*
R
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
R
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SDR
P*
SD
P*
R
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
V66.1_April2016
37
Disease
Tibial muscular dystrophy, tardive
Test
code
OMIM Gene
TTN
8009
188840
SLITRK1
675
609678
Tremor essential type 4
FUS
38
137070
Tuberous sclerosis
TSC1
676
605284
Tuberous sclerosis type 2
TSC2
677
191092
Ullrich congenital muscular dystrophy
COL6A1
697
120220
Ullrich congenital muscular dystrophy
COL6A2
698
120240
Ullrich congenital muscular dystrophy
COL6A3
699
120250
CSTB
793
601145
UROC1
2343
613012
Ventriculomegaly with cystic kidney disease
CRB2
2727
609720
Vitamin E familial deficiency
TTPA
614
600415
Waardenburg syndrome type 2D
SNAI2
2103
602150
Waardenburg syndrome/Hirschsprung disease
EDNRB
194
131244
Walker-Warburg syndrome
FKRP
718
606596
Walker-Warburg syndrome
FKTN
709
607440
Walker-Warburg syndrome
ISPD
521
614631
Warburg micro syndrome type 1
RAB3GAP1
237
602536
WDR27-related brain disorders
WDR27
2166
Wieacker-Wolff syndrome
Tourette syndrome
Unverricht-Lundborg disease
Urocanase deficiency
38
Gene
ZC4H2
2735
300897
Zellweger syndrome
PEX1
678
602136
Zellweger syndrome
PEX2
679
170993
Zellweger syndrome
PEX5
681
600414
Zellweger syndrome
PEX6
682
601498
Zellweger syndrome
PEX10
683
602859
Zellweger syndrome
PEX12
684
601758
Zellweger syndrome
PEX13
685
601789
Zellweger syndrome
PEX14
686
601791
Zellweger syndrome
PEX16
687
603360
Zellweger syndrome
PEX19
688
600279
Zellweger syndrome
PEX26
689
608666
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
S
H P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SDR
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
V66.1_April2016
› Ophthalmological Diseases - Panels
Panel name
Genes
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
SD
P*
S
P*
Albinism panel
C10ORF11, GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1
Cataract panel
AGK, CRYAA, CRYAB, CRYBB1, CRYBB3, CTDP1,
FYCO1, GCNT2, GJA8, HSF4, LIM2, SIL1, TDRD7
5006
Cone-rod and cone dystrophy panel
ABCA4, ADAM9, AIPL1, BEST1, C8ORF37,
CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL,
CNGB3, CNNM4, CRX, GUCA1A, GUCY2D,
PRPH2, GUCY2D, CRX, RPGR,
KCNV2, PDE6C, PDE6H, PITPNM3, PROM1,
BEST1, ABCA4, RPGRIP1, AIPL1
PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1,
RPGR, RPGRIP1, SEMA4A, UNC119
5045
SD
P*
Flecked retina panel
CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1,
VPS13B
5059
SD
P*
Glaucoma panel
ACVR1, ASB10, BEST1, CANT1, COL18A1,
SBF2, PITX2, PAX6, LMX1B, BEST1,
CYP1B1, FOXC1, LMX1B, LOXL1, LTBP2, MYOC,
FOXC1, CYP1B1
NTF4, OPTN, PAX6, PITX2, PITX3, SBF2, WDR36
5270
SD
P*
Hermansky-Pudlak syndrome panel
HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3
5047
S
P*
Leber congenital amaurosis panel
AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D,
IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1,
SPATA7, TULP1
5039
SD
P*
Leber optic atrophy panel
MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1,
MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6
5112
Microphthalmia panel
ALDH1A3, BCOR, BMP4, HCCS, MITF, OTX2,
MITF, BMP4, SOX2
RAX, SIX6, SOX2, STRA6, TENM1, TENM3, VSX2
5098
Oculomotor apraxia panel
APTX, PIK3R5, PNKP, SETX
SETX, APTX
5055
Ophthalmoplegia (progressive external) panel
C10orf2, DNA2, OPA1, POLG, POLG2, RRM2B,
SLC25A4, TYMP
C10orf2, POLG2, RRM2B, POLG,
OPA1, SLC25A4
5043
Optic atrophy panel
AUH, C12ORF65, CISD2, NDUFS1, OPA1, OPA3,
WFS1, SPG7, POLG, OPA1
POLG, SPG7, TIMM8A, TMEM126A, WFS1
5044
S
S
S
S
S
D
D
D
D
P*
P*
P*
P*
P*
Retinitis pigmentosa panel, autosomal dominant
ABCA4, BEST1, CA4, CRX, CLRN1, FSCN2,
GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPH2, RPE65, PRPF31, CRX, RPGR,
PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR,
RP2, RDH12, RHO, BEST1, ABCA4,
RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR,
IMPDH1, RP1
SEMA4A, SNRNP200, TOPORS
5023
SD
P*
EYS, RPE65, RPGR, RP2, RDH12,
RHO, BEST1, ABCA4, USH2A, RP1,
CRB1
5032
SD
P*
ABCA4, ARL6, BBS1, BEST1, C2ORF71,
C8ORF37, CERKL, CNGA1, CNGB1, CRB1,
DHDDS, EYS, FAM161A, FLVCR1, GNPTG,
IDH3B, IMPG2, LRAT, MAK, MERTK, NR2E3,
Retinitis pigmentosa panel, autosomal recessive
NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1,
RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2,
RPE65, RPGR, SAG, SEMA4A, SPATA7, TTC8,
TULP1, USH2A, ZNF513
OCA2, GPR143, TYR, MITF
5000
CHM, VPS13B
RPE65, GUCY2D, CRX, RPGRIP1,
IMPDH1, CEP290, LCA5, RDH12,
AIPL1, CRB1
Stargardt disease panel
ABCA4, BEST1, C1QTNF5, CDH3, CNGB3,
ELOVL4, FSCN2, PROM1, PRPH2, RDH12,
RP1L1, RPGR, TIMP3
BEST1, ABCA4, RPGR, RDH12,
PRPH2
5093
SD
P*
Stickler syndrome panel
COL2A1, COL9A1, COL9A2, COL11A1,
COL11A2
COL2A1, COL11A1
5031
Usher syndrome panel
CDH23, CIB2, CLRN1, DFNB31, GPR98, MYUSH2A, PCDH15
O7A, PCDH15, PDZD7, USH1C, USH1G, USH2A
5218
Vitreoretinopathy and Wagner syndrome panel
COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN
5084
SD
SD
SD
P*
P*
P*
FZD4, LRP5, COL2A1, NDP
› Ophthalmological Diseases
Gene
Test
code
OMIM Gene
Achromatopsia type 2
CNGA3
50
600053
Achromatopsia type 3
CNGB3
940
605080
Achromatopsia type 4
GNAT2
51
139340
Achromatopsia type 6
PDE6H
1604
601190
CACNA1F
861
300110
Albinism, ocular type I, Nettleship-Falls type
GPR143
131
300808
Albinism, oculocutaneous nonsyndromic
SLC24A5
1631
609802
Albinism, oculocutaneous type 1A
TYR
311
606933
Albinism, oculocutaneous type 1B
TYR
311
606933
Albinism, oculocutaneous type 2
OCA2
991
611409
Albinism, oculocutaneous type 3
TYRP1
862
115501
Albinism, oculocutaneous type 4
SLC45A2
863
606202
Albinism, oculocutaneous type 5
C10ORF11
1538
614537
ALMS1
864
606844
PAX6
207
607108
Disease
Aland Island eye disease
Alstrom syndrome
Aniridia
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
S D H P*
S D H P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
39
Disease
Anterior segment mesenchymal dysgenesis
Test
code
OMIM Gene
PITX3
2571
602669
CEP290
642
610142
BEST1
865
607854
Bietti crystalline corneoretinal dystrophy
CYP4V2
2901
608614
Blepharophimosis, epicanthus inversus, and ptosis
FOXL2
1516
605597
Blepharophimosis-ptosis-intellectual disability syndrome
UBE3B
1907
608047
Bothnia retinal dystrophy
RLBP1
866
180090
Bradyopsia
RGS9BP
1606
607814
Bradyopsia
RGS9
1605
604067
Branchiootorenal syndrome type 1
EYA1
125
601653
Branchiootorenal syndrome type 2
SIX5
2060
600963
ZNF469
867
612078
PITX3
2571
602669
Cataract type 23
CRYBA4
2000
123631
Cataract type 43
UNC45B
2774
611220
Cataract, autosomal dominant
GCNT2
868
600429
Cataract, autosomal recessive congenital nuclear type 2
CRYBB3
872
123630
Cataract, autosomal recessive congenital nuclear type 3
CRYBB1
873
600929
Cataract, autosomal recessive congenital type 1
CRYAA
869
123580
Cataract, autosomal recessive congenital type 2
FYCO1
870
607182
Cataract, autosomal recessive congenital type 4
TDRD7
871
611258
AGK
1092
610345
SORD
2526
182500
Cataract, congenital, associated with Marinesco-Sjogren Syndrome
SIL1
874
608005
Cataract, cortical pulverulent, late-onset
LIM2
875
154045
Cataract, lamellar
HSF4
876
602438
Cataract, posterior polar type 2
CRYAB
690
123590
Cataract, pulverulent or cerulean, with or without microcornea
MAF
2222
177075
Cataract, X-linked
NHS
185
300457
Cataract-microcornea syndrome
GJA8
877
600897
Cerebellar-retinal degeneration, infantile
ACO2
2898
100850
Choroidal dystrophy, central areolar type 2
PRPH2
230
179605
Coat plus syndrome
CTC1
1288
613129
Coloboma of optic nerve
PAX6
207
607108
Coloboma, ocular, autosomal dominant
PAX6
207
607108
Colobomatous microphthalmia
TENM1
522
610083
Cone-rod dystrophy
AIPL1
1349
604392
Cone-rod dystrophy
UNC119
1442
604011
Cone-rod dystrophy type 2
CRX
1364
602225
Cone-rod dystrophy type 3
ABCA4
2
601691
Cone-rod dystrophy type 4
PDE6C
1398
600827
Cone-rod dystrophy type 5
PITPNM3
1400
608921
Cone-rod dystrophy type 7
RIMS1
1435
606629
Cone-rod dystrophy type 9
ADAM9
1351
602713
Cone-rod dystrophy type 11
RAX2
1419
610362
Cone-rod dystrophy type 12
PROM1
926
604365
Cone-rod dystrophy type 13
RPGRIP1
246
605446
Cone-rod dystrophy type 14
GUCA1A
192
600364
Cone-rod dystrophy type 15
CDHR1
1371
609502
Cone-rod dystrophy type 17
CD3G
2818
186740
Cone-rod dystrophy type 20
POC1B
2730
614784
Cone-rod dystrophy, C21orf2 related
C21orf2
2480
603191
Cone-rod dystrophy, X-linked type 3
CACNA1F
861
300110
Corneal dystrophy, epithelial basement membrane
TGFBI
1893
601692
Corneal dystrophy, posterior polymorphous, type 1
VSX1
2900
605020
SLC4A11
880
610206
Corneal intraepithelial dyskeratosis and ectodermal dysplasia
NLRP1
2116
606636
Corneal opacification and other ocular anomalies
PXDN
2910
605158
EFEMP1
881
601548
Duane Retraction syndrome
CHN1
882
118423
Duane Retraction syndrome
SALL4
251
607343
Dyschromatosis symmetrica hereditaria
ADAR
86
146920
COL15A1
2650
120325
Ectopia lentis et pupillae
ADAMTSL4
2163
610113
Ectopia lentis, isolated, autosomal recessive
ADAMTSL4
2163
610113
LOXL1
2569
153456
Bardet-Biedl syndrome type 14
Bestrophinopathy
Brittle cornea syndrome
Cataract 11, multiple types
Cataract, autosomal recessive type 38
Cataract, congenital
Corneal endothelial dystrophy type 2
Doyne honeycob retinal dystrophy
Early onset glaucoma, phenotype modifier of, COL15A1 related
Exfoliation syndrome, susceptibility to
40
Gene
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Gene
Test
code
OMIM Gene
Exudative vitreoretinopathy
FZD4
1607
604579
Exudative vitreoretinopathy type 2
NDP
319
300658
Exudative vitreoretinopathy type 5
TSPAN12
1608
613138
Fibrosis of extraocular muscles, congenital type 1
KIF21A
883
608283
Fibrosis of extraocular muscles, congenital type 3a
TUBB3
310
602661
Fleck retina, familial benign
PLA2G5
1609
601192
PAX6
207
607108
Fundus albipunctatus
PRPH2
230
179605
Fundus albipunctatus
RDH5
1434
601617
Gaze palsy, horizontal, with progressive scoliosis
ROBO3
2231
608630
Glaucoma, open angle type 1A
MYOC
884
601652
Glaucoma, open angle type 1E
OPTN
205
602432
Glaucoma, open angle type 1F
ASB10
2567
615054
Glaucoma, open angle type 1F
NTF4
2570
162662
Glaucoma, open angle type 1G
WDR36
885
609669
Glaucoma, primary type 3A
CYP1B1
886
601771
Glaucoma, primary type 3D
LTBP2
887
602091
Gyrate atrophy of choroid and retina with or without ornithinemia
OAT
1986
613349
Hereditary Retinoblastoma
RB1
1643
614041
Hermansky Pudlak syndrome type 4
HPS4
1416
606682
Hermansky-Pudlak syndrome type 1
HPS1
1414
604982
Hermansky-Pudlak syndrome type 2
AP3B1
1399
603401
Hermansky-Pudlak syndrome type 3
HPS3
1415
606118
Hermansky-Pudlak syndrome type 5
HPS5
1417
607521
Hermansky-Pudlak syndrome type 6
HPS6
1418
607522
Hermansky-Pudlak syndrome type 7
DTNBP1
1437
607145
Hermansky-Pudlak syndrome type 8
BLOC1S3
1357
609762
Hyperferritinemia-cataract syndrome
FTL
1633
134790
Iridogoniodysgenesis type 1
FOXC1
888
601090
Jalili syndrome
CNNM4
1634
607805
VSX1
2900
605020
Knobloch syndrome type 1
COL18A1
1635
120328
Leber congenital amaurosis type 1
GUCY2D
902
600179
Leber congenital amaurosis type 3
SPATA7
1422
609868
Leber congenital amaurosis type 5
LCA5
1440
611408
Leber congenital amaurosis type 6
RPGRIP1
246
605446
Leber congenital amaurosis type 7
CRX
1364
602225
Leber congenital amaurosis type 8
CRB1
919
604210
Leber congenital amaurosis type 9
NMNAT1
1731
608700
Leber congenital amaurosis type 10
CEP290
642
610142
Leber congenital amaurosis type 11
IMPDH1
906
146690
Leber congenital amaurosis type 12
RD3
1429
180040
Leber congenital amaurosis type 16
KCNJ13
1732
603208
Leber congenital amaurosis type 17
GDF6
1997
601147
DTHD1
1954
Leber optic atrophy
MT-ATP6
1472
516060
Leber optic atrophy
MT-CO1
1738
516030
Leber optic atrophy
MT-CO3
1739
516050
Leber optic atrophy
MT-CYB
1522
516020
Leber optic atrophy
MT-ND1
1314
516000
Leber optic atrophy
MT-ND2
1735
516001
Leber optic atrophy
MT-ND4L
1737
516004
Leber optic atrophy
MT-ND4
1736
516003
Leber optic atrophy
MT-ND5
1315
516005
Leber optic atrophy
MT-ND6
1316
516006
Macular degeneration, age-related type 3
FBLN5
2491
604580
Macular degeneration, age-related type 6
RAX2
1419
610362
ARMS2
2907
611313
CST3
1871
604312
Macular dystrophy retinal type 2
PROM1
926
604365
Macular dystrophy, BEST2-related
BEST2
2520
607335
Macular dystrophy, BEST3-related
BEST3
2521
607337
Macular dystrophy, BEST4-related
BEST4
2522
607336
Macular dystrophy, vitelliform
BEST1
865
607854
Macular dystrophy, vitelliform
PRPH2
230
179605
Mainzer Saldino syndrome
IFT140
1118
614620
Foveal hypoplasia type 1
Keratoconus type 1
Leber congenital amaurosis with myopathy
Macular degeneration, age-related type 8, association with
Macular degeneration, age-related type 11
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
S
P*
S
P*
S
P*
S
P*
S
P*
S
P*
S
P*
S
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
V66.1_April2016
41
Gene
Test
code
OMIM Gene
Megalocornea, X-linked
CHRDL1
1289
300350
MELAS syndrome, MT-TL1 related
MT-TL1
1317
590050
Microphthalmia syndromic type 2
BCOR
829
300485
Microphthalmia syndromic type 3
SOX2
893
184429
Microphthalmia syndromic type 5
OTX2
894
600037
Microphthalmia syndromic type 6
BMP4
891
112262
Microphthalmia syndromic type 6
SIX6
892
606326
Microphthalmia syndromic type 7
HCCS
830
300056
Microphthalmia syndromic type 8
ALDH1A3
1525
600463
Microphthalmia syndromic type 9
STRA6
758
610745
Microphthalmia, isolated type 2
VSX2
324
142993
Microphthalmia, isolated type 3
RAX
890
601881
Microphthalmia, isolated type 4
GDF6
1997
601147
Microphthalmia, isolated type 5
MFRP
2350
606227
Microphthalmia, isolated type 6
PRSS56
2353
613858
Microphthalmia, isolated type 9
GDF3
1948
606522
Microphthalmia, isolated with coloboma type 3
VSX2
324
142993
Microphthalmia, isolated with coloboma type 6, digenic
GDF3
1948
606522
Microphthalmia, isolated with coloboma type 6, digenic
GDF6
1997
601147
Microphthalmia, isolated with coloboma type 9
TENM3
1845
610083
Microphthalmia, syndromic type 1
NAA10
2351
300013
Microphthalmia, syndromic type 11
VAX1
2355
604294
Microphthalmia, VAX2 related
VAX2
2356
604295
Microspherophakia and/or megalocornea
LTBP2
887
602091
Nanophthalmia type 2
MFRP
2350
606227
Night blindness, congenital stationar type 1B
GRM6
896
604096
Night blindness, congenital stationar type 1C
TRPM1
2012
603576
Night blindness, congenital stationary type 1A
NYX
895
300278
Night blindness, congenital stationary type 2A
CACNA1F
861
300110
Night blindness, congenital stationary type 2B
CABP4
898
608965
Night blindness, congenital stationary type 3
GNAT1
899
139330
Night blindness, congenital stationary, autosomal dominant type 2
PDE6B
209
180072
Night blindness, congenital stationary, type 1E
GPR179
1290
614515
Nonarteritic anterior ischemic optic neuropathy
GP1BA
67
606672
Nystagmus type 1
FRMD7
83
300628
Nystagmus type 6
GPR143
131
300808
Occult macular dystrophy
RP1L1
1532
608581
Oguchi disease
GRK1
900
180381
Oguchi disease
SAG
250
181031
Ophthalmoplegia, isolated, MT-TN related
MT-TN
2559
590010
Optic atrophy type 1
OPA1
1401
605290
Optic atrophy type 3
OPA3
1402
606580
Optic atrophy type 7
TMEM126A
901
612988
Optic atrophy type 9
ACO2
2898
100850
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
OPA1
1401
605290
Patterned dystrophy of retinal pigment epithelium
PRPH2
230
179605
Peters Anomaly
CYP1B1
886
601771
Peters anomaly
PAX6
207
607108
Peters Anomaly
PITX2
216
601542
B3GALTL
29
610308
Pigmented paravenous chorioretinal atrophy
CRB1
919
604210
Plasminogen deficiency type 1
PLG
2335
173350
Progressive external ophthalmoplegia with mitochondrial deletions type 1
POLG
220
174763
Progressive external ophthalmoplegia with mitochondrial deletions type 3
C10orf2
549
606075
Progressive external ophthalmoplegia with mitochondrial deletions type 4
POLG2
221
604983
Progressive external ophthalmoplegia with mitochondrial deletions type 6
DNA2
2209
601810
Progressive external ophthalmoplegia with mitochondrial deletions, autosomal recessive
POLG
220
174763
Retinal cone dystrophy type 3B
KCNV2
905
607604
CACNA2D4
1370
608171
C1QTNF5
1637
608752
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
ITM2B
2623
603904
Retinal nonattachment nonsyndromic congenital
ATOH7
968
609875
LRAT
95
604863
SEMA4C
2301
604462
Retinitis pigmentosa type 1, autosomal dominant
RP1
245
603937
Retinitis pigmentosa type 2 X-linked
RP2
117
300757
Disease
Peters-Plus syndrome
Retinal cone dystrophy type 4
Retinal degeneration, late-onset, autosomal dominant
Retinitis pigmentosa juvenile
Retinitis pigmentosa SEMA4C related
42
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
V66.1_April2016
Disease
Gene
Test
code
OMIM Gene
Retinitis pigmentosa type 3 X-linked
RPGR
1291
312610
Retinitis pigmentosa type 4, autosomal dominant/recessive
RHO
243
180380
Retinitis pigmentosa type 7, autosomal dominant
PRPH2
230
179605
Retinitis pigmentosa type 7
ROM1
118
180721
Retinitis pigmentosa type 9, autosomal dominant
RP9
918
607331
Retinitis pigmentosa type 10, autosomal dominant
IMPDH1
906
146690
Retinitis pigmentosa type 11, autosomal dominant
PRPF31
907
606419
Retinitis pigmentosa type 12, autosomal recessive
CRB1
919
604210
Retinitis pigmentosa type 13, autosomal dominant
PRPF8
908
607300
Retinitis pigmentosa type 14, autosomal recessive
TULP1
920
602280
Retinitis pigmentosa type 17, autosomal dominant
CA4
909
114760
Retinitis pigmentosa type 18, autosomal dominant
PRPF3
910
607301
Retinitis pigmentosa type 19, autosomal recessive
ABCA4
2
601691
Retinitis pigmentosa type 20, autosomal recessive
RPE65
921
180069
Retinitis pigmentosa type 23 X-linked
OFD1
204
300170
Retinitis pigmentosa type 25, autosomal recessive
EYS
922
612424
Retinitis pigmentosa type 26, autosomal recessive
CERKL
923
608381
Retinitis pigmentosa type 27, autosomal dominant
NRL
911
162080
Retinitis pigmentosa type 28, autosomal recessive
FAM161A
111
613596
Retinitis pigmentosa type 30, autosomal dominant
FSCN2
912
607643
Retinitis pigmentosa type 31, autosomal dominant
TOPORS
913
609507
Retinitis pigmentosa type 33, autosomal dominant
SNRNP200
914
601664
SEMA4A
262
607292
Retinitis pigmentosa type 36, autosomal recessive
PRCD
924
610598
Retinitis pigmentosa type 37, autosomal dominant/recessive
NR2E3
200
604485
Retinitis pigmentosa type 38, autosomal recessive
MERTK
925
604705
Retinitis pigmentosa type 39, autosomal recessive
USH2A
321
608400
Retinitis pigmentosa type 40, autosomal recessive
PDE6B
209
180072
Retinitis pigmentosa type 41, autosomal recessive
PROM1
926
604365
Retinitis pigmentosa type 42, autosomal dominant
KLHL7
915
611119
Retinitis pigmentosa type 43, autosomal recessive
PDE6A
927
180071
RGR
242
600342
Retinitis pigmentosa type 45, autosomal recessive
CNGB1
928
600724
Retinitis pigmentosa type 46, autosomal recessive
IDH3B
929
604526
Retinitis pigmentosa type 47, autosomal recessive
SAG
250
181031
Retinitis pigmentosa type 48, autosomal dominant
GUCA1B
916
602275
Retinitis pigmentosa type 49, autosomal recessive
CNGA1
930
123825
Retinitis pigmentosa type 50, autosomal dominant
BEST1
865
607854
Retinitis pigmentosa type 51, autosomal recessive
TTC8
308
608132
Retinitis pigmentosa type 53, autosomal recessive
RDH12
931
608830
Retinitis pigmentosa type 54, autosomal recessive
C2ORF71
932
613425
Retinitis pigmentosa type 55, autosomal recessive
ARL6
22
608845
Retinitis pigmentosa type 56, autosomal recessive
IMPG2
933
607056
Retinitis pigmentosa type 57, autosomal recessive
PDE6G
934
180073
Retinitis pigmentosa type 58, autosomal recessive
ZNF513
935
613598
Retinitis pigmentosa type 59, autosomal recessive
DHDDS
1639
608172
Retinitis pigmentosa type 60
PRPF6
1638
613979
Retinitis pigmentosa type 61, autosomal recessive
CLRN1
936
606397
Retinitis pigmentosa type 62, autosomal recessive
MAK
1640
154235
Retinitis pigmentosa type 64, autosomal recessive
C8ORF37
1641
614477
Retinitis pigmentosa type 66, autosomal recessive
RBP3
1642
180290
Retinitis pigmentosa, juvenile, autosomal recessive
SPATA7
1422
609868
RS1
1644
300839
Revesz syndrome
TINF2
937
604319
Ring dermoid of cornea
PITX2
216
601542
Senior-Loken syndrome type 5
IQCB1
1421
609237
Sorsby fundus dystrophy
TIMP3
1645
188826
Stargardt Disease type 1
ABCA4
2
601691
Stargardt Disease type 1
CNGB3
940
605080
Stargardt Disease type 3
ELOVL4
941
605512
Stargardt Disease type 4
PROM1
926
604365
Stickler sydrome type 1, nonsyndromic ocular
COL2A1
943
120140
Stickler syndrome type 1
COL2A1
943
120140
Stickler syndrome type 2
COL11A1
944
120280
Stickler syndrome type 3
COL11A2
945
120290
Stickler syndrome, autosomal recessive
COL9A1
942
120210
Retinitis pigmentosa type 35, autosomal dominant/recessive
Retinitis pigmentosa type 44, autosomal dominant/recessive
Retinoschisis
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
S D H P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
V66.1_April2016
43
Disease
44
Gene
Test
code
OMIM Gene
Stickler syndrome, type 5
COL9A2
97
120260
Sveinsson choreoretinal atrophy
TEAD1
2530
189967
Usher syndrome type 1D/F
CDH23
1646
605516
Usher syndrome type 1D/F
PCDH15
110
605514
Usher syndrome type 1G
USH1G
2189
607696
Usher syndrome type 1J
CIB2
87
605564
Usher syndrome type 2C
GPR98
2191
602851
Usher syndrome type 2C
PDZD7
2190
612971
Usher syndrome type 3A
CLRN1
936
606397
Vitreoretinochoroidopathy
BEST1
865
607854
Waardenburg syndrome/albinism
MITF
777
156845
Waardenburg syndrome/albinism
TYR
311
606933
Wagner syndrome
VCAN
948
118661
Warburg micro syndrome 3
RAB18
1647
602207
Warburg micro syndrome type 1
RAB3GAP1
237
602536
Weill-Marchesani syndrome - AD
FBN1
950
134797
Weill-Marchesani syndrome - AR
ADAMTS10
951
608990
Wolfram syndrome type 1
WFS1
325
606201
Wolfram syndrome type 2
CISD2
952
611507
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
› Ear, Nose and Throat Diseases - Panels
Panel name
Genes
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
SD
P*
Alport syndrome panel
COL4A3, COL4A4, COL4A5
COL4A4, COL4A5, COL4A3
5034
Ciliary (primary) dyskinesia panel
DNAI1, DNAAF2, DNAAF3, DNAAF5, DNAH5,
HYDIN, NME8, DNAH11, DNAI2, RSPH4A,
RSPH9, DNAAF1, CCDC39, CCDC40, DNAL1,
CCDC103, LRRC6, CCDC114
DNAI1, DNAH5
5075
SD
P*
Deafness, non-syndromic sensorineural autosomal dominant panel
ACTG1, CCDC50, COCH, COL11A2, CRYM,
DFNA5, DIABLO, DIAPH1, DIAPH3, EYA4, GJB2,
GJB3, GJB6, GRHL2, KCNQ4, MIR96, MYH14,
WFS1, GJB6, GJB3, POU3F4, MYH9,
MYH9, MYO1A, MYO6, MYO7A, POU3F4,
GJB2
POU4F3, PRPS1, SIX1, SLC17A8, SMPX, TECTA,
TJP2, TMC1, WFS1
5010
SD
P*
Deafness, non-syndromic sensorineural autosomal recessive panel
CDH23, CLDN14, COL11A2, DFNB31, DFNB59,
ESPN, ESRRB, FOXI1, GIPC3, GJB2, GJB3, GJB6,
GPSM2, GRXCR1, HGF, ILDR1, KCNJ10, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3,
MYO15A, MYO3A, MYO6, MYO7A, OTOA,
OTOF, PCDH15, POU3F4, PRPS1, PTPRQ, RDX,
SERPINB6, SLC12A1, SLC26A4, SLC26A5,
SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3,
TPRN, TRIOBP, USH1C
5011
SD
P*
PCDH15, GJB6, GJB3, POU3F4,
SLC26A4, GJB2
› Ear, Nose and Throat Diseases
Gene
Test
code
OMIM Gene
Alport syndrome, autosomal recessive
COL4A3
983
120070
Alport syndrome, autosomal recessive
COL4A4
984
120131
Alport syndrome, X-Linked
COL4A5
985
303630
Auditory neuropathy, autosomal dominant
DIAPH3
1674
614567
PLCB4
1015
600810
Brown-Vialetto-Van Laere syndrome 1
SLC52A3
1941
613350
Ciliogenesis related disorder
PTPN23
1973
606584
GJB2
953
121011
Deafness, autosomal dominant type 1
DIAPH1
965
602121
Deafness, autosomal dominant type 2A
KCNQ4
966
603537
Deafness, autosomal dominant type 2B
GJB3
964
603324
Deafness, autosomal dominant type 3A
GJB2
953
121011
Deafness, autosomal dominant type 3B
GJB6
954
604418
Deafness, autosomal dominant type 4B
CEACAM16
2443
614591
Deafness, autosomal dominant type 4
MYH14
970
608568
Deafness, autosomal dominant type 5
DFNA5
971
608798
Deafness, autosomal dominant type 6
WFS1
325
606201
Deafness, autosomal dominant type 9
COCH
972
603196
Deafness, autosomal dominant type 10
EYA4
973
603550
Deafness, autosomal dominant type 11
MYO7A
178
276903
Deafness, autosomal dominant type 12
TECTA
974
602574
Deafness, autosomal dominant type 13
COL11A2
945
120290
Deafness, autosomal dominant type 15
POU4F3
224
602460
Deafness, autosomal dominant type 17
MYH9
179
160775
Deafness, autosomal dominant type 20
ACTG1
989
102560
Deafness, autosomal dominant type 22
MYO6
976
600970
Deafness, autosomal dominant type 23
SIX1
977
601205
Deafness, autosomal dominant type 25
SLC17A8
1665
607557
Deafness, autosomal dominant type 28
GRHL2
1666
608576
Deafness, autosomal dominant type 36
TMC1
300
606706
Deafness, autosomal dominant type 39, with dentinogenesis type 1
DSPP
1667
125485
Deafness, autosomal dominant type 40
CRYM
1668
123740
Deafness, autosomal dominant type 44
CCDC50
978
611051
Deafness, autosomal dominant type 48
MYO1A
1670
601478
Deafness, autosomal dominant type 50
MIR96
1669
611606
Deafness, autosomal dominant type 52
POU4F3
224
602460
Deafness, autosomal dominant type 64
DIABLO
1671
605219
Deafness, autosomal dominant type 65
TBC1D24
783
613577
Deafness, autosomal recessive
GJB3
964
603324
Deafness, autosomal recessive
SUN1
1528
607723
Deafness, autosomal recessive type 1A
GJB2
953
121011
Disease
Auriculocondylar syndrome type 2
Deafness with keratopachydermia and constrictions of fingers and toes
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
V66.1_April2016
45
Disease
Deafness, autosomal recessive type 1B
Test
code
OMIM Gene
GJB6
954
604418
Deafness, autosomal recessive type 2
MYO7A
178
276903
Deafness, autosomal recessive type 3
MYO15A
955
602666
Deafness, autosomal recessive type 4
FOXI1
2109
601093
Deafness, autosomal recessive type 6
TMIE
956
607237
Deafness, autosomal recessive type 7
TMC1
300
606706
TMPRSS3
1648
605511
Deafness, autosomal recessive type 9
OTOF
957
603681
Deafness, autosomal recessive type 15
GIPC3
1649
608792
Deafness, autosomal recessive type 16
STRC
958
606440
Deafness, autosomal recessive type 18
USH1C
959
605242
Deafness, autosomal recessive type 22
OTOA
1650
607038
Deafness, autosomal recessive type 23
PCDH15
110
605514
Deafness, autosomal recessive type 24
RDX
1651
179410
Deafness, autosomal recessive type 25
GRXCR1
1652
613283
Deafness, autosomal recessive type 28
TRIOBP
960
609761
Deafness, autosomal recessive type 29
CLDN14
1653
605608
Deafness, autosomal recessive type 30
MYO3A
961
606808
Deafness, autosomal recessive type 31
DFNB31
1654
607928
Deafness, autosomal recessive type 35
ESRRB
1655
602167
Deafness, autosomal recessive type 36
ESPN
1656
606351
Deafness, autosomal recessive type 39
HGF
962
142409
Deafness, autosomal recessive type 42
ILDR1
1657
609739
Deafness, autosomal recessive type 48
CIB2
87
605564
Deafness, autosomal recessive type 49
MARVELD2
1658
610572
Deafness, autosomal recessive type 53
COL11A2
945
120290
Deafness, autosomal recessive type 59
DFNB59
1659
610219
Deafness, autosomal recessive type 61
SLC26A5
1660
604943
Deafness, autosomal recessive type 63
LRTOMT
1662
612414
Deafness, autosomal recessive type 66
DCDC2
2647
605755
Deafness, autosomal recessive type 67
LHFPL5
1663
609427
Deafness, autosomal recessive type 70
PNPT1
2686
610316
Deafness, autosomal recessive type 74
MSRB3
1661
613719
Deafness, autosomal recessive type 76
SYNE4
1527
615535
Deafness, autosomal recessive type 77
LOXHD1
722
613072
Deafness, autosomal recessive type 79
TPRN
1664
613354
Deafness, autosomal recessive type 84
PTPRQ
963
603317
Deafness, autosomal recessive type 86
TBC1D24
783
613577
Deafness, autosomal recessive type 89
KARS
2806
601421
Deafness, autosomal recessive type 91
SERPINB6
1878
173321
Deafness, autosomal recessive type 93
CABP2
2307
614899
FGF3
2625
602292
Deafness, dystonia, and cerebral hypomyelination, X-linked
BCAP31
2311
300398
Deafness, nonsyndromic, sensorineural, mitochondrial
MT-RNR1
1827
561000
Deafness, X-linked type 1
PRPS1
231
311850
Deafness, X-linked type 2
POU3F4
1672
300039
Deafness, X-linked type 4
SMPX
1673
300226
Deafness, X-linked type 6
COL4A6
2753
303631
Fazio-Londe disease
SLC52A3
1941
613350
Hearing loss, MAP1A related
MAP1A
2003
600178
Hearing loss, MYH7B related
MYH7B
2615
609928
Keratitis ichthyosis deafness syndrome autosomal dominant
GJB2
953
121011
Keratoderma, palmoplantar, with deafness
GJB2
953
121011
Knuckle pads and leukonychia sensorineural deafness
GJB2
953
121011
Mitochondrial modifier of deafness
TRMU
46
610230
TIMM8A
298
300356
Otopaladigital syndrome type 1
FLNA
803
300017
Otopaladigital syndrome type 2
FLNA
803
300017
SLC26A4
988
605646
FLCN
55
607273
Primary ciliary dyskinesia
DNAH9
2007
603330
Primary ciliary dyskinesia type 1
DNAI1
1476
604366
Primary ciliary dyskinesia type 2
DNAAF3
1292
614566
Primary ciliary dyskinesia type 3
DNAH5
1477
603335
Primary ciliary dyskinesia type 5
HYDIN
1478
610812
Primary ciliary dyskinesia type 6
NME8
1479
607421
Deafness, autosomal recessive type 8/10
Deafness, congenital with inner ear agenesis, microtia, and microdontia
Opticoacoustic nerve atrophy with dementia
Pendred syndrome
Pneumothorax, primary spontaneous
46
Gene
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
S D H P*
S D H P*
S D H P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
V66.1_April2016
Gene
Test
code
OMIM Gene
Primary ciliary dyskinesia type 7
DNAH11
1480
603339
Primary ciliary dyskinesia type 9
DNAI2
1481
605483
Primary ciliary dyskinesia type 10
DNAAF2
2245
612517
Primary ciliary dyskinesia type 11
RSPH4A
1482
612647
Primary ciliary dyskinesia type 12
RSPH9
1483
612648
Primary ciliary dyskinesia type 13
DNAAF1
1484
613190
Primary ciliary dyskinesia type 14
CCDC39
1485
613798
Primary ciliary dyskinesia type 15
CCDC40
1486
613799
Primary ciliary dyskinesia type 16
DNAL1
1487
610062
Primary ciliary dyskinesia type 17
CCDC103
749
614677
Primary ciliary dyskinesia type 18
DNAAF5
1488
614864
Primary ciliary dyskinesia type 19
LRRC6
1489
614930
Primary ciliary dyskinesia type 20
CCDC114
1490
615038
Primary ciliary dyskinesia type 29
CCNO
2772
607752
Progressive hearing loss
P2RX2
1540
600844
Pulmonary fibrosis, idiopathic
SFTPA2
2511
178642
CACNA1D
2796
114206
Tietz albinism-deafness syndrome
MITF
777
156845
Wolfram syndrome type 1
WFS1
325
606201
Wolfram syndrome type 2
CISD2
952
611507
Disease
Sinoatrial node dysfunction and deafness
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
V66.1_April2016
47
› Bone, Skin and Immune Diseases - Panels
Panel name
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
S
P*
S
P*
S
P*
SD
P*
SD
P*
Chronic granulomatous disease panel
CYBA, CYBB, NCF1, NCF2, NCF4
5283
Common variable immune deficiency (CVID)
panel
ICOS, NFKB2, TNFRSF13B, TNFRSF13C
5246
Congenital ichthyosis panel
ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22,
LIPN, NIPAL4, PNPLA1, TGM1
5095
Cornelia de Lange syndrome panel
HDAC8, NIPBL, RAD21, SMC1A, SMC3
NIPBL
5119
Cutis laxa panel
ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN,
FBLN5, LTBP4, PYCR1
ATP7A, ELN
5260
Ehlers-Danlos syndrome and related disorders
panel
ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2,
COL3A1, COL5A1, COL5A2, FKBP14, FLNA,
PLOD1, SLC39A13, TNXB
COL1A1, FLNA, TNXB, COL5A1,
PLOD1, COL1A2, COL3A1, ATP7A
5052
SD
P*
Epidermolysis bullosa panel
COL17A1, DSP, DST, EXPH5, FERMT1, ITGA3,
ITGA6, ITGB4, JUP, KRT5, KRT14, LAMA3,
LAMB3, LAMC2, PKP1, PLEC, TGM5
KRT5, JUP, DSP
5102
SD
P*
Fanconi anemia panel
BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL,
FANCM, PALB2, SLX4, XRCC2
FANCD2, BRIP1, FANCB, PALB2,
BRCA2, FANCA
5012
Hemophagocytic Lymphohistiocytosis panel
PRF1, UNC13D, STX11, STXBP2
UNC13D, STX11, PRF1
5212
P*
P*
Ichthyosis extended panel
ABCA12, ALOX12B, ALOXE3, AP1S1, CERS3,
CLDN1, CYP4F22, EBP, ERCC2, ERCC3, FLG,
GJB2, GJB3, GJB4, GTF2H5, KRT1, KRT10,
KRT2, LIPN, LOR, MPLKIP, NIPAL4, PEX7, PHYH,
PNPLA1, POMP, SLC27A4, SNAP29, SPINK5,
ST14, STS, SUMF1, TGM1, TGM5
SD
SD
GJB3, STS, GJB2
5273
SD
P*
Neurofibromatosis panel
NF1, NF2, SPRED1
SPRED1, NF2, NF1
5209
Nonsyndromic hypotrichosis panel
APCDD1, CDSN, DSG4, HR, KRT71, KRT74,
LIPH, LPAR6, RPL21, SNRPE
SD
S
P*
P*
Osteogenesis imperfecta and low bone density
disorders
ALPL, BMP1, COL1A1, COL1A2, CREB3L1,
CRTAP, FKBP10, IFITM5, LEPRE1, LRP5,
PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7,
TMEM38B, WNT1
PLS3, COL1A1, LRP5, COL1A2
5249
SD
P*
Osteopetrosis and high bone density disorders
panel
ANKH, CA2, CLCN7, COL1A1, GJA1, HPGD,
LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1,
TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP
COL1A1, LRP5, MTAP
5060
SD
P*
Periodic fever syndrome panel
ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1,
TNFRSF1A
MEFV
5224
Susceptibility to atypical mycobacterium
disease panel
CYBB, IFNGR1, IFNGR2, IKBKG, IL12A, IL12B,
IL12RB1, IL12RB2, IRF8, ISG15, STAT1, TYK2
SD
S
SD
P*
P*
P*
Waardenburg syndrome panel
48
Genes
EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
5290
5272
EDN3, MITF, EDNRB, SNAI2, SOX10,
PAX3, TYR
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
5221
V66.1_April2016
› Bone, Skin and Immune Diseases - Large Extended Screening Panels
Panel name
CentoICU platinum
CentoICU platinum plus
Test
code
Genes
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
5288
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
5289
L P
L P*
L P*
› Bone, Skin and Immune Diseases
Gene
Test
code
OMIM Gene
3MC syndrome type 1
MASP1
1293
600521
3MC syndrome type 2
COLEC11
1294
612502
Achondrogenesis type 1A
TRIP11
1928
604505
Achondrogenesis type 1B
SLC26A2
1933
606718
Achondrogenesis type 2
COL2A1
943
120140
FGFR3
1452
134934
Disease
Achondroplasia
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
49
Disease
Acne inversa familial type 3
Test
code
OMIM Gene
PSEN1
233
104311
SLC39A4
1358
607059
Acrodysostosis 2
PDE4D
1053
600129
Acrofacial dysostosis 1, Nager type
SF3B4
742
605593
Adams-Oliver syndrome type 1
ARHGAP31
990
610911
Adams-Oliver syndrome type 2
DOCK6
1275
614194
Adams-Oliver syndrome type 3
RBPJ
1799
147183
Adams-Oliver syndrome type 4
EOGT
2633
614789
SLC24A5
1631
609802
Albinism, oculocutaneous type 1A
TYR
311
606933
Albinism, oculocutaneous type 1B
TYR
311
606933
Albinism, oculocutaneous type 2
OCA2
991
611409
Albinism, oculocutaneous type 3
TYRP1
862
115501
Albinism, oculocutaneous type 4
SLC45A2
863
606202
Albinism, oculocutaneous type 5
C10ORF11
1538
614537
HR
2692
602302
Amelogenesis imperfecta type 1A
LAMB3
1025
150310
Amelogenesis imperfecta type 1E
AMELX
2717
300391
Amelogenesis imperfecta type 1F
AMBN
2711
601259
Amelogenesis imperfecta type 1G
FAM20A
2719
611062
Amelogenesis imperfecta type 1H
ITGB6
2712
147558
Amelogenesis imperfecta type 2A1
KLK4
2709
603767
Amelogenesis imperfecta type 2A2
MMP20
2710
604629
Amelogenesis imperfecta type 2A3
WDR72
2715
613214
Amelogenesis imperfecta type 2A4
C4orf26
2713
614829
Amelogenesis imperfecta type 2A5
SLC24A4
1526
609840
Amelogenesis imperfecta type 3
FAM83H
2718
611927
Amelogenesis imperfecta type 4
DLX3
1748
600525
Amelogenesis imperfecta, type 1B
ENAM
2720
606585
Amelogenesis imperfecta, type 1C
ENAM
2720
606585
Amelotin deficiency
AMTN
2714
610912
Amyloidosis, primary localized cutaneous, type 1
OSMR
2348
601743
Amyloidosis, primary localized cutaneous, type 2
IL31RA
2349
609510
Arthrogryposis, distal, type 1A
TPM2
306
190990
Arthrogryposis, distal, type 1B
MYBPC1
992
160794
Arthrogryposis, distal, type 2A
MYH3
175
160720
Arthrogryposis, distal, type 2B
MYH3
175
160720
Arthrogryposis, distal, type 2B
TNNI2
994
191043
Arthrogryposis, distal, type 2B
TNNT3
993
600692
Arthrogryposis, distal, type 3
PIEZO2
2397
613629
Arthrogryposis, distal, type 5D
ECEL1
2536
605896
Arthrogryposis, distal, type 5
PIEZO2
2397
613629
Arthrogryposis, distal, type 7
MYH8
995
160741
Arthrogryposis, distal, type 9
FBN2
590
612570
Arthrogryposis, mental retardation, and seizures
SLC35A3
1931
605632
Arthrogryposis, renal dysfunction, and cholestasis type 1
VPS33B
1760
608552
Arthrogryposis, renal dysfunction, and cholestasis type 2
VIPAS39
2467
613401
Arthropathy, progressive pseudorheumatoid, of childhood
WISP3
326
603400
Atelosteogenesis type 1
FLNB
1884
603381
Atelosteogenesis type 3
FLNB
1884
603381
HR
2692
602302
Atypical Mycobacterial infection
IFNGR2
1987
147569
Atypical Mycobacterial infection
IKBKG
1740
300248
Atypical Mycobacterial infection
IL12RB1
1999
601604
Atypical Mycobacterial infection
STAT1
2076
600555
IL12RB2
2105
601642
Autoimmune lymphoproliferative syndrome type 1A
FAS
1109
134637
Autoimmune lymphoproliferative syndrome type 1B
FASLG
1113
134638
Autoimmune lymphoproliferative syndrome type 2A
CASP10
1156
601762
Autoimmune lymphoproliferative syndrome type 2B
CASP8
1155
601763
Autoimmune lymphoproliferative syndrome type 3
PRKCD
2462
176977
Autoimmune polyendocrinopathy syndrome type 1
AIRE
1831
607358
Autoinflammation, lipodystroph and dermatosis syndrome
PSMB8
1295
177046
Avascular necrosis of the femoral head, primary
COL2A1
943
120140
Bare lymphocyte syndrome, type 2
RFXANK
1899
603200
B-cell expansion with NFKB and T-cell anergy
CARD11
2797
607210
Acrodermatitis enteropathica
Albinism, oculocutaneous nonsyndromic
Alopecia universalis
Atrichia with papular lesions
Atypical Mycobacterial infection, IL12RB2 related
50
Gene
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Gene
Test
code
OMIM Gene
Beare-Stevenson cutis gyrata syndrome
FGFR2
1730
176943
Bent bone dysplasia syndrome
FGFR2
1730
176943
PLS3
2435
300131
Buschke-Ollendorff syndrome
LEMD3
996
607844
C1q deficiency
C1QA
2883
120550
C2 deficiency
C2
1837
613927
C3 deficiency
C3
1838
120700
C5 deficiency
C5
2465
120900
C7 deficiency
C7
2196
217070
LYST
997
606897
PTPN14
2739
603155
Chondrodysplasia punctata, X-linked dominant
EBP
2445
300205
Chondrodysplasia punctata, X-linked recessive
ARSE
1864
300180
Chondrosarcoma, familial
EXT1
1733
608177
Cleidocranial dysplasia
RUNX2
999
600211
Cold autoinflammatory syndrome type 2
NLRP12
2248
609648
Cole disease
ENPP1
2236
173335
Combined cellular and humoral immune defects with granulomas
RAG2
1970
179616
Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive
RAG2
1970
179616
Combined immunodeficiency, X-linked, moderate
IL2RG
1820
308380
Cornelia de Lange syndrome type 1
NIPBL
1000
608667
Cornelia de Lange syndrome type 2
SMC1A
278
300040
Cornelia de Lange syndrome type 3
SMC3
1001
606062
Cornelia de Lange syndrome type 4
RAD21
1446
606462
Cornelia de Lange syndrome type 5
HDAC8
1375
300269
Craniofacial-skeletal-dermatologic dysplasia
FGFR2
1730
176943
Crouzon syndrome with acanthosis nigricans
FGFR3
1452
134934
Cutis laxa type 1A, autosomal recessive
FBLN5
2491
604580
Cutis laxa type 1B, autosomal recessive
EFEMP2
77
604633
Cutis laxa type 1C, autosomal recessive
LTBP4
2493
604710
Cutis laxa type 2, autosomal dominant
FBLN5
2491
604580
Cutis laxa type 2A, autosomal recessive
ATP6V0A2
2490
611716
Cutis laxa type 2B, autosomal recessive
PYCR1
78
179035
Cutis laxa type 3A, autosomal recessive
ALDH18A1
2492
138250
Cutis laxa type 3B, autosomal recessive
PYCR1
78
179035
ELN
2271
130160
COL2A1
943
120140
Dentin dysplasia, type 2
DSPP
1667
125485
Dentinogenesis imperfecta, Shields type 2
DSPP
1667
125485
Dentinogenesis imperfecta, Shields type 3
DSPP
1667
125485
FLG
1002
135940
MTAP
975
156540
Diarrhea type 2 with microvillus atrophy
MYO5B
1895
606540
Diarrhea type 6
GUCY2C
2830
601330
Dyskeratosis congenita, autosomal dominant type 1
TERC
291
602322
Dyskeratosis congenita, autosomal dominant type 1
TERT
292
187270
Dyskeratosis congenita, autosomal recessive type 1
NOP10
1003
606471
Dyskeratosis congenita, autosomal recessive type 2
NHP2
1004
606470
Dyskeratosis congenita, autosomal recessive type 5
RTEL1
2064
608833
Dyskeratosis congenita, autosomal recessive type 6
PARN
2705
604212
Dyskeratosis congenita, X-linked
DKC1
810
300126
Dyssegmental dysplasia, Silverman-Handmaker type
HSPG2
137
142461
Ectodermal dysplasia type 4, hair/nail type
KRT85
2361
602767
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
CDH3
1678
114021
Ectodermal dysplasia, hidrotic
GJB6
954
604418
Ectodermal dysplasia, hypohidrotic, autosomal recessive
EDAR
1007
604095
Ectodermal dysplasia, hypohidrotic, autosomal recessive
EDARADD
1008
606603
IKBKG
1740
300248
Ectodermal dysplasia, hypohidrotic, X-linked
EDA
1009
300451
Ectodermal dysplasia/skin fragility syndrome
PKP1
2433
601975
Ehlers-Danlos syndrome type 1/2
COL5A1
1010
120215
Ehlers-Danlos syndrome type 1/2
COL5A2
1011
120190
Ehlers-Danlos syndrome type 3
COL3A1
1013
120180
Ehlers-Danlos syndrome type 3
TNXB
1012
600985
Ehlers-Danlos syndrome type 4
COL3A1
1013
120180
Ehlers-Danlos syndrome type 4
COL5A1
1010
120215
Bone mineral density QTL18, osteoporosis
Chediak-Higashi syndrome
Choanal atresia and lymphedema
Cutis laxa, autosomal dominant
Czech dysplasia
Dermatitis, atopic type 2
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Ectodermal dysplasia, hypohidrotic, with immune deficiency
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
V66.1_April2016
51
Gene
Test
code
OMIM Gene
Ehlers-Danlos syndrome type 6
PLOD1
1016
153454
Ehlers-Danlos syndrome type 7A
COL1A1
1017
120150
Ehlers-Danlos syndrome type 7B
COL1A2
1054
120160
Ehlers-Danlos syndrome type 7C
ADAMTS2
1361
604539
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
FKBP14
1296
614505
Ehlers-Danlos syndrome, musculocontractural type 1
CHST14
2429
608429
Ehlers-Danlos syndrome, musculocontractural type 2
DSE
2489
605942
B4GALT7
2005
604327
GATA2
2544
137295
COL7A1
1019
120120
Epidermolysis bullosa junctionalis with pyloric atresia
ITGA6
1020
147556
Epidermolysis bullosa junctionalis with pyloric atresia
ITGB4
1021
147557
Epidermolysis bullosa simplex
KRT5
1022
148040
Epidermolysis bullosa simplex
KRT14
1023
148066
Epidermolysis bullosa simplex with pyloric atresia
PLEC
705
601282
Epidermolysis bullosa simplex, autosomal recessive
DST
1263
113810
Epidermolysis bullosa simplex, Ogna type
PLEC
705
601282
Epidermolysis bullosa, junctional
COL17A1
1024
113811
Epidermolysis bullosa, junctional
LAMC2
1026
150292
Epidermolysis bullosa, junctional, Herlitz type
LAMB3
1025
150310
Epidermolysis bullosa, junctional, LAMA3 related
LAMA3
154
600805
Epidermolysis bullosa, junctional, non-Herlitz type
LAMB3
1025
150310
DSP
1297
125647
EXPH5
2431
612878
Epidermolytic hyperkeratosis
KRT1
1027
139350
Epidermolytic hyperkeratosis
KRT10
1028
148080
Epidermolytic palmoplantar keratoderma
KRT9
1029
607606
Epiphyseal dysplasia, multiple, type 1
COMP
1451
600310
Epiphyseal dysplasia, multiple, type 3
COL9A3
2164
120270
Epiphyseal dysplasia, multiple, type 5
MATN3
2165
602109
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE
DSG1
2169
125670
Erythrokeratodermia variabilis et progressive
GJB3
964
603324
Erythrokeratodermia variabilis et progressive
GJB4
1031
605425
COX4I2
1030
607976
Exostoses, multiple, type 1
EXT1
1733
608177
Exostoses, multiple, type 2
EXT2
2375
608210
ERCC4
2543
133520
Feingold syndrome type 2
MIR17HG
1032
609415
Fibrochondrogenesis 2
COL11A2
945
120290
ACVR1
707
102576
PHOX2A
1033
602753
Floating-Harbor syndrome
SRCAP
1034
611421
Focal dermal hypoplasia
PORCN
805
300651
Frank-ter Haar syndrome
SH3PXD2B
266
613293
Geleophysic dysplasia
ADAMTSL2
1035
612277
TBXAS1
2428
274180
ANO5
719
608662
FAM111A
2046
615292
Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1
NCF1
1968
608512
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
CYBA
2172
608508
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
NCF2
2173
608515
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
NCF4
2174
601488
Granulomatous disease, chronic, X-linked
CYBB
998
300481
LBR
2446
600024
Griscelli syndrome type 1
MYO5A
785
160777
Griscelli syndrome type 3
MLPH
1967
606526
Haim-Munk syndrome
CTSC
488
602365
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
CD59
2663
107271
Hemophagocytic lymphohistiocytosis type 2
PRF1
225
170280
Hemophagocytic lymphohistiocytosis type 3
UNC13D
313
608897
Hemophagocytic lymphohistiocytosis type 4
STX11
282
605014
Hemophagocytic lymphohistiocytosis type 5
STXBP2
283
601717
Hennekam lymphangiectasia-lymphedema syndrome type 1
CCBE1
2642
612753
Hepatic venoocclusive disease with immunodeficiency
SP110
2398
604457
Herpes simplex encephalitis type 2, susceptibility to
TLR3
2219
603029
SLC29A3
2451
612373
Disease
Ehlers-Danlos syndrome, progeroid type 1
Emberger syndrome
Epidermolysis bullosa dystrophica
Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, nonspecific, autosomal recessive
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Fanconi anemia, complementation group Q
Fibrodysplasia ossificans progressiva
Fibrosis of extraocular muscles, congenital type 2
Ghosal hematodiaphyseal syndrome
Gnathodiaphyseal dysplasia
Gracile bone dysplasia
Greenberg skeletal dysplasia
Histiocytosis-lymphadenopathy plus syndrome
52
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Hyaline fibromatosis syndrome
Gene
Test
code
OMIM Gene
ANTXR2
1724
608041
Hyper-IgE recurrent infection syndrome
STAT3
1679
102582
Hyper-IgE recurrent infection syndrome, autosomal recessive
DOCK8
1782
611432
Hypertrophic osteoarthropathy type 1
HPGD
2268
601688
Hypertrophic osteoarthropathy type 2
SLCO2A1
759
601460
Hypotrichosis type 1
APCDD1
2691
607479
Hypotrichosis type 2
CDSN
1443
602593
Hypotrichosis type 3
KRT74
1676
608248
Hypotrichosis type 4
HR
2692
602302
Hypotrichosis type 6
DSG4
2664
607892
Hypotrichosis type 7
LIPH
2269
607365
Hypotrichosis type 8
LPAR6
2693
609239
Hypotrichosis type 11
SNRPE
2694
128260
Hypotrichosis type 12
RPL21
2695
603636
Hypotrichosis type 13
KRT71
1675
608245
Hypotrichosis-lymphedema-telangiectasia syndrome
SOX18
2452
601618
Ichthyosiform erythroderma, congenital, nonbullous type 1
ALOX12B
1037
603741
Ichthyosiform erythroderma, congenital, nonbullous type 1
ALOXE3
1038
607206
Ichthyosiform erythroderma, congenital, nonbullous type 1
NIPAL4
1039
609383
Ichthyosis congenital, autosomal recessive, PNPLA1 related
PNPLA1
1298
612121
Ichthyosis congenital, Harlequin fetus type
ABCA12
1
607800
Ichthyosis follicularis, atricia, and photophobia syndrome
MBTPS2
318
300294
Ichthyosis prematurity syndrome
SLC27A4
1802
604194
Ichthyosis vulgaris
FLG
1002
135940
Ichthyosis, bullous type
KRT2
1041
600194
Ichthyosis, congenital, autosomal recessive type 1
TGM1
296
190195
Ichthyosis, congenital, autosomal recessive, type 9
CERS3
2180
615276
Ichthyosis, congenital, autosomal recessive, type 11
ST14
2583
606797
Ichthyosis, lamellar type 2
ABCA12
1
607800
Ichthyosis, lamellar type 3
CYP4F22
1042
611495
Ichthyosis, lamellar type 4
LIPN
1043
613924
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
CLDN1
2582
603718
Ichthyosis, spastic quadriplegia, and mental retardation
ELOVL4
941
605512
Ichthyosis, X-linked
STS
1044
300747
Immunodeficiency common variable type 1
ICOS
648
604558
Immunodeficiency common variable type 2
TNFRSF13B
2386
604907
Immunodeficiency common variable type 3
CD19
2481
107265
Immunodeficiency common variable type 4
TNFRSF13C
2411
606269
Immunodeficiency common variable type 6
CD81
2832
186845
Immunodeficiency common variable type 8
LRBA
2409
606453
Immunodeficiency common variable type 10
NFKB2
2410
164012
LAMTOR2
2847
610389
PNP
2463
164050
Immunodeficiency type 2, with hyper-IgM
AICDA
2239
605257
Immunodeficiency type 3, with hyper-IgM
CD40
2819
109535
Immunodeficiency type 5, with hyper IgM
UNG
2240
191525
Immunodeficiency type 8
CORO1A
2461
605000
Immunodeficiency type 9
ORAI1
2517
610277
Immunodeficiency type 10
STIM1
2391
605921
Immunodeficiency type 11
CARD11
2797
607210
Immunodeficiency type 12
MALT1
2817
604860
Immunodeficiency type 14
PIK3CD
2071
602839
Immunodeficiency type 15
IKBKB
2842
603258
Immunodeficiency type 18
CD3E
2460
186830
Immunodeficiency type 19
CD3D
2459
186790
Immunodeficiency type 21
GATA2
2544
137295
Immunodeficiency type 22
LCK
2848
153390
Immunodeficiency type 24
CTPS1
2834
123860
Immunodeficiency type 25
CD247
2537
186780
Immunodeficiency type 26, with or without neurologic abnormalities
PRKDC
8003
600899
Immunodeficiency type 32A, mycobacteriosis, autosomal dominant
IRF8
2576
601565
Immunodeficiency type 32B, monocyte and dendritic cell deficiency, autosomal recessive
IRF8
2576
601565
Immunodeficiency type 35
TYK2
2079
176941
Immunodeficiency type 36
PIK3R1
2523
171833
Immunodeficiency type 38
ISG15
2577
147571
Immunodeficiency, isolated
IKBKG
1740
300248
Immunodeficiency due to defect in MAPBP-interacting protein
Immunodeficiency due to purine nucleoside phosphorylase deficiency
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
53
Disease
Immunodeficiency, primary, autosomal recessive, IL21R-related
Test
code
OMIM Gene
IL21R
2844
605383
Immunodeficiency, X-linked with hyper-IgM
CD40LG
1742
300386
Immunodeficiency-centromeric instability-facial anomalies syndrome type 1
DNMT3B
2529
602900
Immunodeficiency-centromeric instability-facial anomalies syndrome type 2
ZBTB24
2464
614064
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
FOXP3
1045
300292
Immunological disorder, PECAM1 related
PECAM1
2058
173445
Immunological disorder, PICALM related
PICALM
1783
603025
Incontinentia pigmenti type 2
IKBKG
1740
300248
Inflammatory bowel disease type 13
ABCB1
1790
171050
ADAM17
2738
603639
Interleukin 2 receptor deficiency
IL2RA
1959
147730
Interleukin 12A deficiency
IL12A
2575
161560
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
ITGA3
2432
605025
Invasive pneumococcal disease, recurrent isolated type 2
IKBKG
1740
300248
Keratoderma, palmoplantar, punctate type 1A
AAGAB
2382
614888
Keratosis follicularis spinulosa declavans, X-linked
MBTPS2
318
300294
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
POMP
2434
613386
Keratosis palmoplantaris striata type 1
DSG1
2169
125670
Keratosis palmoplantaris striata type 2
DSP
1297
125647
Kindler syndrome
FBLIM1
2229
607747
Kindler syndrome
FERMT1
1046
607900
Laryngoonychocutaneous syndrome
LAMA3
154
600805
Legg-Calve-Perthes disease
COL2A1
943
120140
Legius syndrome
SPRED1
281
609291
LIG4
1543
601837
Loeys-Dietz syndrome type 1A
TGFBR1
294
190181
Loeys-Dietz syndrome type 1B
TGFBR2
295
190182
Loeys-Dietz syndrome type 1C
SMAD3
1047
603109
Loeys-Dietz syndrome type 2A
TGFBR1
294
190181
Loeys-Dietz syndrome type 2B
TGFBR2
295
190182
Lymphedema, hereditary, type 1A
FLT4
2906
136352
Majeed syndrome
LPIN2
1965
605519
Major histocompatibility comples 1 deficiency
MR1
1780
600764
SLURP1
1048
606119
ZMPSTE24
328
606480
FBN1
950
134797
Marfan syndrome, TGFBR1 related
TGFBR1
294
190181
Marfan syndrome, TGFBR2 related
TGFBR2
295
190182
MKKS
166
604896
GUCY2C
2830
601330
MEDNIK syndrome
AP1S1
2581
603531
MERRF syndrome, MT-TK related
MT-TK
657
590060
MERRF syndrome, MT-TP related
MT-TP
658
590075
COL10A1
2412
120110
IDH1
2142
147700
Muckle-wells syndrome
NLRP3
1050
606416
Multicentric carpotarsal osteolysis syndrome
MAFB
633
608968
Multicentric osteolysis, nodulosis, and arthropathy
MMP2
2225
120360
Multiple pterygium syndrome lethal type
CHRNA1
60
100690
Multiple pterygium syndrome lethal type
CHRND
61
100720
Mycobacterial infection, atypical, familial disseminated
IFNGR1
1886
107470
Nail-Patella syndrome
LMX1B
159
602575
Netherton syndrome
SPINK5
1051
605010
Neurofibromatosis type 1 -like syndrome
SPRED1
281
609291
Neurofibromatosis type 1
NF1
182
613113
Neurofibromatosis type 2
NF2
183
607379
Neutropenia, nonimmune chronic idiopathic, of adults
GFI1
2455
600871
Neutropenia, severe congenital type 2, autosomal dominant
GFI1
2455
600871
Neutropenia, severe congenital type 4, autosomal recessive
G6PC3
2456
611045
Neutropenia, severe congenital type 5, autosomal recessive
VPS45
2810
610035
Neutropenia, severe congenital type 6, autosomal recessive
JAGN1
2846
616012
Neutrophil immunodeficiency syndrome
RAC2
2539
602049
WNT10A
1052
606268
Olmsted syndrome
TRPV3
739
607066
Omenn syndrome
DCLRE1C
2081
605988
Omenn syndrome
RAG2
1970
179616
Inflammatory skin and bowel disease, neonatal, type 1
LIG4 syndrome
Mal de Meleda
Mandibuloacral dysplasia with type B lipodystrophy
Marfan syndrome
McKusick-Kaufman syndrome
Meconium ileus
Metaphyseal chondrodysplasia, Schmid type
Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate
Odontoonychodermal dysplasia
54
Gene
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
S
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Omodysplasia type 1
Gene
Test
code
OMIM Gene
GPC6
2065
604404
Opsismodysplasia
INPPL1
1868
600829
Osseous heteroplasia, progressive
GNAS
1345
139320
COL2A1
943
120140
CSF1
1989
120420
Osteogenesis disorders, CREB3L1 related
CREB3L1
2387
258480
Osteogenesis imperfecta
COL1A1
1017
120150
Osteogenesis imperfecta
COL1A2
1054
120160
Osteogenesis imperfecta type 5
IFITM5
664
614757
Osteogenesis imperfecta type 6
SERPINF1
2436
172860
Osteogenesis imperfecta type 7
CRTAP
1057
605497
Osteogenesis imperfecta type 8
LEPRE1
1058
610339
Osteogenesis imperfecta type 9
PPIB
1055
123841
Osteogenesis imperfecta type 10
SERPINH1
1824
613848
Osteogenesis imperfecta type 11
FKBP10
1056
607063
Osteogenesis imperfecta type 12
SP7
113
606633
Osteogenesis imperfecta type 13
BMP1
98
112264
Osteogenesis imperfecta type 14
TMEM38B
2210
611236
Osteogenesis imperfecta type 15
WNT1
2437
164820
Osteogenesis imperfecta with congenital joint contractures
PLOD2
1217
601865
Osteomyelitis, sterile multifocal, with periostitis and pustulosis
IL1RN
1777
147679
Osteopathia striata with cranial sclerosis
AMER1
1059
300647
Osteopetrosis of infancy, malignant
SNX10
1299
614780
Osteopetrosis, autosomal dominant type 1
CLCN7
706
602727
Osteopetrosis, autosomal recessive type 1
TCIRG1
807
604592
Osteopetrosis, autosomal recessive type 2
TNFSF11
808
602642
Osteopetrosis, autosomal recessive type 3
CA2
668
611492
Osteopetrosis, autosomal recessive type 4
CLCN7
706
602727
Osteopetrosis, autosomal recessive type 5
OSTM1
811
607649
Osteopetrosis, autosomal recessive type 6
PLEKHM1
814
611466
Osteopetrosis, autosomal recessive type 7
TNFRSF11A
1086
603499
Osteoporosis pseudoglioma syndrome
LRP5
124
603506
Pachyonychia congenita type 1
KRT16
2326
148067
Pachyonychia congenita type 2
KRT17
2318
148069
Pachyonychia congenita type 3
KRT6A
1961
148041
Pachyonychia congenita type 4
KRT6B
2327
148042
Paget disease of bone
SQSTM1
2337
601530
Paget disease, juvenile
TNFRSF11B
2336
602643
Palmoplantar keratoderma, nonepidermolytic, focal
KRT16
2326
148067
Papillon-Lefevre syndrome
CTSC
488
602365
Peeling skin syndrome type 1
CDSN
1443
602593
Peeling skin syndrome type 2
TGM5
1061
603805
Peeling skin syndrome type 3
CHST8
1444
610190
Peeling skin syndrome type 4
CSTA
2911
184600
CARD14
2640
607211
Poikiloderma with neutropenia
USB1
2618
613276
Porokeratosis type 3, disseminated superficial actinic
MVK
1741
251170
Porphyria cutanea tarda
UROD
320
613521
Pseudoachondroplasia
COMP
1451
600310
Pseudoxanthoma elasticum
ABCC6
2334
603234
Pseudoxanthoma elasticum, forme fruste
ABCC6
2334
603234
Psoriasis susceptibility type 11
IL12B
1911
161561
Psoriasis type 2
CARD14
2640
607211
Psoriasis, generalized pustular
IL36RN
1823
605507
Pterygium syndrome
CHRNG
1300
100730
Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4
PARN
2705
604212
Pycnodysostosis
CTSK
1063
601105
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
PSTPIP1
2255
606347
Radioulnar synostosis, FGFRL1 related
FGFRL1
2288
605830
Raine syndrome
FAM20C
2496
611061
Restrictive dermopathy, lethal
LMNA
158
150330
Restrictive dermopathy, lethal
ZMPSTE24
328
606480
Reticular dysgenesis
AK2
2061
103020
Rheumatoid arthritis, susceptibility to
AFF3
2118
601464
Rheumatoid arthritis, TNFAIP3 related
TNFAIP3
2122
191163
NOD2
2310
605956
Osteoarthritis with mild chondrodysplasia
Osteogenesis and dental anomalies, CSF1 related
Pityriasis rubra pilaris
Sarcoidosis, early-onset
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
55
Disease
Gene
Test
code
OMIM Gene
Selective T-cell defect
ZAP70
2291
176947
ADA
1682
608958
IL2
2843
147680
NHEJ1
1211
611290
Severe combined immunodeficiency due to ADA deficiency
Severe combined immunodeficiency due to IL2 deficiency
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to
ionizing radiation
Severe combined immunodeficiency, Athabascan type
DCLRE1C
2081
605988
Severe combined immunodeficiency, B cell-negative
RAG1
1807
179615
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
PTPRC
2458
151460
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type
IL7R
2457
146661
Skin fragility-woolly hair syndrome
DSP
1297
125647
SLC24A4
1526
609840
FLNB
1884
603381
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
SLC39A13
2430
608735
Spondylocostal dysostosis, autosomal recessive type 1
DLL3
2202
602768
Spondylocostal dysostosis, autosomal recessive type 2
MESP2
1062
605195
Spondylocostal dysostosis, autosomal recessive type 3
LFNG
1064
602576
Spondyloenchondrodysplasia with immune dysregulation
ACP5
1723
171640
Spondyloepimetaphyseal dysplasia, MATN3 related
MATN3
2165
602109
Spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3
109
603799
Spondylometaepiphyseal dysplasia, short limb-hand type
DDR2
1065
191311
Steatocystoma multiplex
KRT17
2318
148069
DNASE1
1066
125505
Systemic lupus erythematosus, susceptibility to
ITGAM
2277
120980
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
FOXN1
2538
600838
Telangiectasia hereditary hemorrhagic type 5
GDF2
2261
605120
Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 1
ENG
1068
131195
Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 2
ACVRL1
1067
601284
Terminal osseous dysplasis
FLNA
803
300017
Trichodontoosseous syndrome
DLX3
1748
600525
Trichohepatoenteric syndrome type 1
TTC37
1513
614589
Trichohepatoenteric syndrome type 2
SKIV2L
317
600478
Trichorhinophalangeal syndrome type 1
TRPS1
120
604386
Trichothiodystrophy
ERCC2
1552
126340
Trichothiodystrophy
ERCC3
1861
133510
Trichothiodystrophy
GTF2H5
1755
608780
Trichothiodystrophy, nonphotosensitive type 1
MPLKIP
1070
609188
Tuftelin deficiency
TUFT1
2721
600087
Tylosis with esophageal cancer
RHBDF2
1049
614404
UV-sensitive syndrome type 3
UVSSA
1036
614632
SOST
2427
605740
TMEM173
2723
612374
NLRP1
2116
606636
Vohwinkel syndrome with ichthyosis
LOR
1778
152445
Waardenburg syndrome type 1
PAX3
1071
606597
Waardenburg syndrome type 2E
SOX10
279
602229
Waardenburg syndrome type 4C
SOX10
279
602229
Winchester Syndrome
MMP14
1935
600754
Wolcott-Rallison syndrome
EIF2AK3
1072
604032
ATP6V0A2
2490
611716
Xeroderma pigmentosum, group A
XPA
1550
611153
Xeroderma pigmentosum, group C
XPC
1551
613208
Xeroderma pigmentosum, group D
ERCC2
1552
126340
Xeroderma pigmentosum, group E, DDB-negative subtype
DDB2
2542
600811
Xeroderma pigmentosum, group F
ERCC4
2543
133520
Xeroderma pigmentosum, group G
ERCC5
2167
133530
Xeroderma pigmentosum, variant type
POLH
1553
603968
XFE progeroid syndrome
ERCC4
2543
133520
Skin hair eye pigmentation type 6
Spondylocarpotarsal synostosis syndrome
Systemic lupus erythematosus
Van Buchem disease
Vasculopathy, infantile-onset, TMEM173/STING related
Vitiligo-associated multiple autoimmune disease
Wrinkly skin syndrome
56
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
› Cardiological and Lung Diseases - Panels
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
Arrhythmia, hereditary panel
AKAP9, ANK2, CACNA1C, CACNB2, CASQ2,
CAV3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5,
KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2,
KCNQ1, NPPA, PKP2, PLN, RYR2, SCN1B,
SCN3B, SCN4B, SCN5A, SNTA1, TGFB3,
TMEM43
DSG2, SCN5A, CAV3, PKP2, KCNQ1,
KCNE2, DSC2, RYR2, KCNE1,
KCNH2, TGFB3, JUP, KCNJ2, DSP
5027
SD
P*
Arrhythmogenic right ventricular cardiomyopathy panel
DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3,
TMEM43
DSG2, TGFB3, JUP, RYR2, PKP2,
DSC2, DSP
5028
Brugada syndrome panel
CACNA1C, CACNB2, GPD1L, HCN4, KCNE3,
SCN1B, SCN3B, SCN5A, SLMAP
SCN5A
5062
SD
SD
P*
P*
Cardiomyopathy dilated panel
ABCC9, ACTC1, ACTN2, BAG3, CSRP3, DES,
DMD, DSG2, EYA4, FKTN, GATAD1, LAMP2,
LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN,
PLN, PSEN1, MT-ND1, MT-ND5, MT-ND6, MTTD, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MTTM, MT-TQ, MT-TS1, MT-TS2, PSEN2, RBM20,
SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO,
TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
SGCD, MYBPC3, BAG3, MYH7,
DMD, TNNT2, DSG2, SCN5A, LMNA,
PSEN1, SDHA, FKTN
5005
SD
P*
Cardiomyopathy hypertrophic panel
ACTC1, CALR3, CAV3, CSRP3, GLA, JPH2,
LAMP2, MYBPC3, MYH6, MYH7, MYL2,
MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2,
SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN,
TTR, VCL
MYBPC3, MYH7, SLC25A4, TNNT2,
CAV3, GLA
5004
SD
P*
Catecholaminergic polymorphic ventricular
tachycardia panel
RYR2, CASQ2, KCNJ2
RYR2, KCNJ2
5007
Congenital heart defects panel
CFC1, CITED2, CRELD1, FOXH1, GATA4, GATA6,
NKX2-5, TBX1, CFC1, GATA4
GDF1, NKX2-5, NOTCH1, TBX1, TBX20, ZFPM2
5298
SD
SD
P*
P*
Long QT syndrome panel
AKAP9, ANK2, CACNA1C, CAV3, KCNE1,
KCNE2, SCN5A, CAV3, KCNQ1,
KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B,
KCNH2, KCNE1, KCNJ2
SCN5A, SNTA1
5014
SD
P*
Marfan syndrome and related disorders panel
ACTA2, COL3A1, COL5A1, COL5A2, FBN1,
FBN2, MYH11, SLC2A10, SMAD3, TGFBR1,
TGFBR2
5042
SD
P*
Panel name
Genes
COL5A1, FBN1, COL3A1, TGFBR1,
TGFBR2
› Cardiological and Lung Diseases - Large Extended Screening Panels
Panel name
CentoICU platinum
Genes
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
Test
code
L P
5288
L P*
V66.1_April2016
57
Panel name
CentoICU platinum plus
Test
code
Genes
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
L P
5289
L P*
› Cardiological and Lung Diseases
Disease
Gene
Test
code
OMIM Gene
Alveolar capillary dysplasia with misalignment of pulmonary veins
FOXF1
2048
601089
Arrhythmogenic right ventricular cardiomyopathy type 1
TGFB3
1301
190230
Arrhythmogenic right ventricular cardiomyopathy type 5
TMEM43
1302
612048
Arrhythmogenic right ventricular cardiomyopathy type 8
DSP
1297
125647
Arrhythmogenic right ventricular cardiomyopathy type 9
PKP2
1303
602861
Arrhythmogenic right ventricular cardiomyopathy type 10
DSG2
1304
125671
Arrhythmogenic right ventricular cardiomyopathy type 11
DSC2
1305
125645
Arrhythmogenic right ventricular cardiomyopathy type 12
JUP
1306
173325
Arrhythmogenic right ventricular dysplasia type 2
RYR2
8006
180902
Atrial fibrillation type 3
KCNQ1
148
607542
Atrial fibrillation type 4
KCNE2
144
603796
Atrial fibrillation type 6
NPPA
1308
108780
Atrial fibrillation type 7
KCNA5
1307
176267
Atrial fibrillation type 10
SCN5A
257
600163
Atrial fibrillation type 11
GJA5
59
121013
Atrial septal defect type 3
MYH6
39
160710
Atrial septal defect type 4
TBX20
2891
606061
Atrial septal defect type 8
CITED2
2890
602937
Atrial septal defect type 9
GATA6
1040
601656
Atrioventricular septal defect type 5
GATA6
1040
601656
TAZ
1309
300394
Bicuspid aortic valve
TIMP1
2224
305370
Brugada syndrome type 1
SCN5A
257
600163
Brugada syndrome type 2
GPD1L
1073
611778
Brugada syndrome type 3
CACNA1C
1074
114205
Brugada syndrome type 4
CACNB2
1075
600003
Brugada syndrome type 5
SCN1B
254
600235
Brugada syndrome type 6
KCNE3
1076
604433
Brugada syndrome type 7
SCN3B
1310
608214
Brugada syndrome type 8
HCN4
116
605206
Brugada syndrome type 9
SLMAP
1545
602701
Cardiac defects, CNOT3 related
CNOT3
2287
604910
Cardiac defects, PPP1R8 related
PPP1R8
2352
602636
FLNA
803
300017
Barth syndrome
Cardiac valvular dysplesia, X-linked
58
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Gene
Test
code
OMIM Gene
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
SCO2
1425
604272
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 2
COX15
1368
603646
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3
COA5
2833
613920
Cardiofaciocutaneous syndrome
BRAF
1078
164757
Cardiofaciocutaneous syndrome
KRAS
152
190070
Cardiofaciocutaneous syndrome type 3
MAP2K1
161
176872
Cardiofaciocutaneous syndrome type 4
MAP2K2
162
601263
Cardiomyopathy, apical hypertrophic, and neuropathy, MT-ATP8 related
MT-ATP8
2554
516070
Cardiomyopathy, dilated
MYBPC3
174
600958
Cardiomyopathy, dilated type 1A
LMNA
158
150330
Cardiomyopathy, dilated type 1AA
ACTN2
1683
102573
Cardiomyopathy, dilated type 1C
LDB3
157
605906
Cardiomyopathy, dilated type 1CC
NEXN
1684
613121
Cardiomyopathy, dilated type 1D
TNNT2
303
191045
Cardiomyopathy, dilated type 1DD
RBM20
1685
613171
Cardiomyopathy, dilated type 1E
SCN5A
257
600163
Cardiomyopathy, dilated type 1EE
MYH6
39
160710
Cardiomyopathy, dilated type 1G
TTN
8009
188840
BAG3
30
603883
Cardiomyopathy, dilated type 1I
DES
741
125660
Cardiomyopathy, dilated type 1J
EYA4
973
603550
Cardiomyopathy, dilated type 1KK
MYPN
2803
608517
Cardiomyopathy, dilated type 1L
SGCD
265
601411
Cardiomyopathy, dilated type 1LL
PRDM16
2258
605557
Cardiomyopathy, dilated type 1M
CSRP3
1081
600824
Cardiomyopathy, dilated type 1N
TCAP
289
604488
Cardiomyopathy, dilated type 1O
ABCC9
1082
601439
Cardiomyopathy, dilated type 1P
PLN
1083
172405
Cardiomyopathy, dilated type 1R
ACTC1
7
102540
Cardiomyopathy, dilated type 1S
MYH7
176
160760
Cardiomyopathy, dilated type 1T
TMPO
1084
188380
Cardiomyopathy, dilated type 1U
PSEN1
233
104311
Cardiomyopathy, dilated type 1V
PSEN2
234
600759
Cardiomyopathy, dilated type 1W
VCL
1085
193065
Cardiomyopathy, dilated type 1X
FKTN
709
607440
Cardiomyopathy, dilated type 1Y
TPM1
305
191010
Cardiomyopathy, dilated type 1Z
TNNC1
1087
191040
Cardiomyopathy, dilated type 1
CRYAB
690
123590
Cardiomyopathy, dilated type 2A
TNNI3
302
191044
Cardiomyopathy, dilated type 2B
GATAD1
1686
614518
Cardiomyopathy, dilated type 3B
DMD
726
300377
DNAJC19
2298
608977
LMNA
158
150330
Cardiomyopathy, dilated with woolly hair and keratoderma
DSP
1297
125647
Cardiomyopathy, familial hypertrophic
CAV3
701
601253
Cardiomyopathy, familial hypertrophic type 1
MYH7
176
160760
Cardiomyopathy, familial hypertrophic type 2
TNNT2
303
191045
Cardiomyopathy, familial hypertrophic type 3
TPM1
305
191010
Cardiomyopathy, familial hypertrophic type 4
MYBPC3
174
600958
Cardiomyopathy, familial hypertrophic type 6
PRKAG2
226
602743
Cardiomyopathy, familial hypertrophic type 7
TNNI3
302
191044
Cardiomyopathy, familial hypertrophic type 8
MYL3
1090
160790
Cardiomyopathy, familial hypertrophic type 9
TTN
8009
188840
Cardiomyopathy, familial hypertrophic type 10
MYL2
1091
160781
Cardiomyopathy, familial hypertrophic type 11
ACTC1
7
102540
Cardiomyopathy, familial hypertrophic type 12
CSRP3
1081
600824
Cardiomyopathy, familial hypertrophic type 16
MYOZ2
1688
605602
Cardiomyopathy, familial hypertrophic type 17
JPH2
1687
605267
Cardiomyopathy, familial hypertrophic type 19
CALR3
1689
611414
Cardiomyopathy, familial restrictive type 1
TNNI3
302
191044
Cardiomyopathy, fatal, MT-TI related
MT-TI
1312
590045
Cardiomyopathy, hypertrophic, midventricular, digenic
MYLK2
1690
606566
Cardiomyopathy, hypertrophic, MT-TG related
MT-TG
2562
590035
Cardiomyopathy, idiopathic dilated, mitochondrial, MT-TH related
MT-TH
1311
590040
Cardiomyopathy, infantile hypertrophic, MT-ATP8 related
MT-ATP8
2554
516070
Cardiomyopathy, left ventricular noncompaction, MYH7B related
MYH7B
2615
609928
Disease
Cardiomyopathy, dilated type 1HH
Cardiomyopathy, dilated with ataxia
Cardiomyopathy, dilated with hypergonadotropic hypogonadism
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
S D H P*
S
H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
S D H P*
S D H P*
S D H P*
S D H P*
SD
P*
S D H P*
SD
P*
S
H P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S
P*
SD
P*
S
P*
S
P*
S
P*
SD
P*
V66.1_April2016
59
Disease
Central hypoventilation syndrome with or without Hirschsprung disease
Test
code
OMIM Gene
PHOX2B
740
603851
Central hypoventilation syndrome, congenital
ASCL1
712
100790
Congenital heart defects multiple types
TAB2
2021
605101
Coronary heart disease, susceptibility to, type 6
MMP3
2469
185250
Danon disease
LAMP2
155
309060
Diaphragmatic hernia type 3
ZFPM2
2283
603693
DBH
1509
609312
Heart block, progressive, familial, type 1A
SCN5A
257
600163
Heart-hand syndrome, Slovenian type
LMNA
158
150330
Jervell and Lange-Nielsen syndrome type 1
KCNQ1
148
607542
Jervell and Lange-Nielsen syndrome type 2
KCNE1
143
176261
Long QT syndrome type 1
KCNQ1
148
607542
Long QT syndrome type 2
KCNH2
145
152427
Long QT syndrome type 3
SCN5A
257
600163
Long QT syndrome type 4
ANK2
1093
106410
Long QT syndrome type 5
KCNE1
143
176261
Long QT syndrome type 6
KCNE2
144
603796
Long QT syndrome type 8
CACNA1C
1074
114205
Long QT syndrome type 9
CAV3
701
601253
Long QT syndrome type 10
SCN4B
1096
608256
Long QT syndrome type 11
AKAP9
1097
604001
Long QT syndrome type 12
SNTA1
1098
601017
Long QT syndrome type 13
KCNJ5
1099
600734
McKusick-Kaufman syndrome
MKKS
166
604896
MELAS syndrome
MT-TC
2560
590020
MELAS syndrome
MT-TF
987
590070
MELAS syndrome, MT-TL1 related
MT-TL1
1317
590050
MERRF/MELAS overlap syndrome, MT-TS1 related
MT-TS1
1319
590080
MERRF/MELAS overlap syndrome, MT-TS2 related
MT-TS2
1320
590085
Mitochondrial myopathy and sideroblastic anemia type 1
PUS1
44
608109
Mitochondrial myopathy, infantile, transient, MT-TE related
MT-TE
2564
590025
Mitochondrial myopathy, isolated
MT-TD
1321
590015
Mitochondrial myopathy, MT-TA related
MT-TA
2558
590000
Mitochondrial myopathy, MT-TM related
MT-TM
1323
590065
Myopathy, MT-TQ related
MT-TQ
1322
590030
Myopathy, tubular aggregate, type 2
ORAI1
2517
610277
Pancreatic agenesis and congenital heart defects
GATA6
1040
601656
Progressive familial heart block
TRPM4
1544
606936
Pulmonary fibrosis, idiopathic
SFTPA1
2055
178630
Pulmonary newborn hypertension
CRHR1
1325
122561
AGK
1092
610345
Short QT syndrome type 1
KCNH2
145
152427
Short QT syndrome type 2
KCNQ1
148
607542
Short QT syndrome type 3
KCNJ2
147
600681
Sick sinus syndrome type 1
SCN5A
257
600163
Sick sinus syndrome type 3
MYH6
39
160710
CACNA1D
2796
114206
Sudden infant death syndrome, susceptibility to
SCN5A
257
600163
Sudden infant death with dysgenesis of the testes syndrome
TSPYL1
2871
604714
Tetralogy of Fallot
ALDH1A2
2135
603687
Tetralogy of Fallot
GATA6
1040
601656
Tetralogy of Fallot
ZFPM2
2283
603693
Transposition of the great arteries, dextro-looped 1
MED13L
2912
608771
Ventricular fibrillation, paroxysmal familial type 1
SCN5A
257
600163
Ventricular septal defect type 2
CITED2
2890
602937
Ventricular tachycardia, catecholaminergic polymorphic type 1
RYR2
8006
180902
Ventricular tachycardia, catecholaminergic polymorphic type 2
CASQ2
1101
114251
Ventricular tachycardia, catecholaminergic polymorphic type 3
CALM2
1549
114182
Ventricular tachycardia, catecholaminergic polymorphic type 4
CALM1
1548
114180
Ventricular tachycardia, catecholaminergic polymorphic type 5
TRDN
2381
603283
PRKAG2
226
602743
Dopamine beta-hydroxylase (DBH) deficiency
Sengers syndrome
Sinoatrial node dysfunction and deafness
Wolff -Parkinson-White syndrome
60
Gene
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SDR
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
S D H P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S
P*
S
P*
S
P*
S
P*
S
P*
SD
P*
S
P*
S
P*
S
P*
S
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
› Vascular Diseases - Panels
Panel name
Genes
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
Aortic aneurysm, hereditary thoracic panel
MYH11, ACTA2, TGFBR1, TGFBR2, FBN1,
COL3A1, SMAD3, CBS, FBN2, SLC2A10, MYLK,
TGFB2, TGFB3
TGFBR1, FBN1, TGFB3, COL3A1,
TGFBR2
5061
SD
P*
Dolichoectasia panel
COL4A1, COL4A2, GAA, MMP3, PKD1, PKD2,
SLC2A10
PKD1, PKD2
5253
Hereditary hemorrhagic telangiectasia panel
ACVRL1, ADAM17, ENG, GDF2, PTPN14,
RASA1, SMAD4
ENG, RASA1, SMAD4, ACVRL1
5282
SD
SD
P*
P*
› Vascular Diseases
Gene
Test
code
OMIM Gene
Angioedema, hereditary
SERPING1
1105
606860
Antithrombin III deficiency
SERPINC1
1860
107300
FBN1
950
134797
Aortic aneurysm, familial thoracic type 3
TGFBR2
295
190182
Aortic aneurysm, familial thoracic type 4
MYH11
1102
160745
Aortic aneurysm, familial thoracic type 5
TGFBR1
294
190181
Aortic aneurysm, familial thoracic type 6
ACTA2
6
102620
Aortic aneurysm, familial thoracic type 7
MYLK
1104
600922
Aortic aneurysm, familial thoracic type 8
PRKG1
2688
176894
Aortic aneurysm, familial thoracic, MAT2A related
MAT2A
2487
601468
Aortic valve disease type 1
NOTCH1
1449
190198
Aortic valve disease type 2
SMAD6
1450
602931
Arterial calcification type 1, generalized, infantile
ENPP1
2236
173335
Arterial calcification type 2, generalized, infantile
ABCC6
2334
603234
SLC2A10
272
606145
Atherosclerosis, SOAT1 related
SOAT1
2323
102642
Bernard Soulier syndrome type A1
GP1BA
67
606672
Bernard Soulier syndrome type A2
GP1BA
67
606672
Bernard Soulier syndrome type B
GP1BB
68
138720
Bernard Soulier syndrome type C
GP9
69
173515
NOTCH3
188
600276
Capillary malformation-arteriovenous malformation
RASA1
2232
139150
CARASIL
HTRA1
138
602194
Carotid intimal medial thickness type 1
PPARG
2566
601487
Cerebral cavernous malformations type 1
KRIT1
52
604214
Cerebral cavernous malformations type 2
CCM2
53
607929
Cerebral cavernous malformations type 3
PDCD10
54
609118
Coarctation of the aorta
MCTP2
2246
Coronary artery disease in familial hypercholesterolemia, protection against
ABCA1
2098
600046
GLA
373
300644
Factor II deficiency
F2
374
176930
Factor VII deficiency
F7
2385
613878
Glycoprotein Ia C807T polymorphism
ITGA2
1110
192974
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
JAM3
2771
606871
Homocystinuria
CBS
1111
613381
Homocystinuria
MTHFR
1112
607093
Homocystinuria, B12-responsive
MTR
173
156570
Homocystinuria-megaloblastic anemia, cbl E type
MTRR
982
602568
Hypertension early onset
NR3C2
82
600983
Hypertension, ADD2 related
ADD2
2107
102681
CYP3A5
2518
605325
Loeys-Dietz syndrome type 4
TGFB2
889
190220
Moyamoya disease type 2
RNF213
119
613768
GUCY1A3
2809
139396
Myoglobinuria acute recurrent
LPIN1
562
605518
Myopathy with lactic acidosis hereditary
ISCU
667
611911
Orthostatic intolerance
SLC6A2
2075
163970
Parkes Weber syndrome
RASA1
2232
139150
Plasminogen activator inhibitor type 1
SERPINE1
1114
173360
Polyarteritis nodosa, childhood-onset
CECR1
2256
607575
Protein C Deficiency, AD
PROC
1115
612283
Disease
Aortic aneurysm, ascending, and dissection
Arterial Tortuosity Syndrome
CADASIL
Fabry disease
Hypertension, salt-sensitive essential, susceptibility to
Moyamoya type 6 with achalasia
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
61
Disease
Gene
Test
code
OMIM Gene
Protein S Deficiency, autosomal dominant
PROS1
1116
176880
Pseudohypoaldosteronism type 2D
KLHL3
377
605775
Pseudohypoaldosteronism type 2E
CUL3
802
603136
Pulmonary hypertension, primary type
BMPR2
2290
600799
Pulmonary venoocclusive disease type 1
BMPR2
2290
600799
Sneddon syndrome
CECR1
2256
607575
Stormorken syndrome
STIM1
2391
605921
ELN
2271
130160
Transposition of the great arteries, dextro-looped 1
MED13L
2912
608771
Vascular system defects due to CALCRL deficiency
CALCRL
2612
114190
Vascular system defects due to GNA13 deficiency
GNA13
755
604406
Supravalvar aortic stenosis
62
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
› Liver, Kidney and Endocrinological Diseases - Panels
Panel name
Genes
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
CFH, CFHR1, CFHR2, CFHR3, CFHR5
5202
SD
P*
5003
S
P*
Atypical hemolytic uremic syndrome panel
ADAMTS13, C3, CD46, CFB, CFH, CFHR1,
CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE,
PIGA, THBD
Bardet Biedl panel
ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2,
BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290,
LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32,
TTC8, WDPCP
Bartter Syndrome panel
ATP6V1B1, BSND, CA2, CASR, CLCNKA,
CLCNKB, CLDN16, CLDN19, FXYD2, HSD11B2,
KCNJ1, KCNJ10, KLHL3, NR3C2, SCNN1A,
SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC4A1, SLC4A4, WNK1, WNK4
SLC12A3, CLCNKA, CLCNKB, CASR
5089
SD
P*
Congenital adrenal hyperplasia panel
CYP21A2, CYP17A1, CYP11B1, HSD3B2, POR,
STAR
CYP17A1, POR
5271
Focal Glomerulonephrosis panel
ACTN4, CD2AP, INF2, NPHS1, NPHS2, TRPC6,
WT1
WT1
5205
Intrahepatic cholestasis panel
ABCB11, ABCB4, ATP8B1, UGT1A1
ABCB4
5267
Kallmann syndrome/Gonadotropin-releasing
hormone deficiency panel
CHD7, FGF8, FGFR1, GNRH1, GNRHR, HESX1,
KAL1, KISS1, KISS1R, PROK2, PROKR2, SEMA3A, TAC3, TACR3
CHD7, FGFR1, GNRH1, GNRHR,
HESX1, KAL1, KISS1R, PROK2,
PROKR2
5051
D
D
D
D
Maple syrup urine disease panel
BCKDHA, BCKDHB, DBT, DLD
5068
Meckel syndrome panel
MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2,
TMEM231
5220
S
S
S
S
S
S
P*
P*
P*
P*
P*
P*
Nephronophthisis panel
NPHP1, INVS, NPHP3, NPHP4, ANKS6, IQCB1,
CEP164, CEP290, GLIS2, RPGRIP1L, NEK8,
SDCCAG8, ZNF423
NPHP1
5041
SD
P*
Nephrotic syndrome panel
ARHGDIA, DGKE, LAMB2, NPHS1, NPHS2,
PLCE1, WT1
WT1
5096
Pancreatitis panel
CFTR, CPA1, CTRC, PRSS1, SPINK1
SPINK1, CFTR, PRSS1
5002
Polycystic kidney panel
BICC1, PKD1, PKD2, NOTCH2, PKHD1
PKD1, PKD2, PKHD1
5053
Pseudohypoaldosteronism panel
CUL3, HSD11B2, KLHL3, NR3C2, SCNN1A,
SCNN1B, SCNN1G, WNK1, WNK4
SD
SD
SD
S
P*
P*
P*
P*
5269
› Liver, Kidney and Endocrinological Diseases - Large Extended Screening Panels
Panel name
CentoICU platinum
Genes
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
Test
code
L P
5288
L P*
V66.1_April2016
63
Panel name
CentoICU platinum plus
Test
code
Genes
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
L P
5289
L P*
› Liver, Kidney and Endocrinological Diseases
Disease
17-beta hydroxysteroid dehydrogenase X deficiency
Achalasia addisonianism alacrimia syndrome
Test
code
OMIM Gene
HSD17B10
134
300256
AAAS
121
605378
Acromegaly, predisposition to, due to germline GPR101 mutation
GPR101
2740
300393
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
CYP11A1
2095
118485
TBX19
2513
604614
Alport syndrome, autosomal recessive
COL4A3
983
120070
Alport syndrome, autosomal recessive
COL4A4
984
120131
Alport syndrome, X-Linked
COL4A5
985
303630
Androgen insensitivity
AR
20
313700
Androgen insensitivity, partial, with or without breast cancer
AR
20
313700
SHBG
2787
182205
VIPAS39
2467
613401
Bardet-Biedl syndrome type 1
BBS1
31
209901
Bardet-Biedl syndrome type 2
BBS2
35
606151
Bardet-Biedl syndrome type 3
ARL6
22
608845
Bardet-Biedl syndrome type 4
BBS4
36
600374
Bardet-Biedl syndrome type 5
BBS5
1120
603650
Bardet-Biedl syndrome type 6
MKKS
166
604896
Bardet-Biedl syndrome type 7
BBS7
1121
607590
Bardet-Biedl syndrome type 8
TTC8
308
608132
Bardet-Biedl syndrome type 9
BBS9
1122
607968
Bardet-Biedl syndrome type 10
BBS10
32
610148
Bardet-Biedl syndrome type 11
TRIM32
307
602290
Bardet-Biedl syndrome type 12
BBS12
33
610683
Bardet-Biedl syndrome type 13
MKS1
34
609883
Bardet-Biedl syndrome type 14
CEP290
642
610142
Bardet-Biedl syndrome type 15
WDPCP
1326
613580
CCDC28B
58
610162
LZTFL1
500
606568
Bartter syndrome
SLC12A2
1695
600840
Bartter syndrome
SLC12A3
1130
600968
Bartter syndrome
SLC12A5
1697
606726
Bartter syndrome
SLC12A7
1698
604879
Bartter syndrome type 1
SLC12A1
1691
600839
Adrenocorticotropic hormone deficiency
Androgen-binding protein deficiency
Arthrogryposis, renal dysfunction, and cholestasis type 2
Bardet-Biedl syndrome, CCDC28B related
Bardet-Biedl syndrome, LZTFL1 related
64
Gene
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SDR
P*
SDR
P*
SD
P*
SD
P*
S D H P*
S D H P*
S D H P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
S D H P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Gene
Test
code
OMIM Gene
Bartter syndrome type 2
KCNJ1
1692
600359
Bartter syndrome type 3
CLCNKB
1514
602023
Bartter syndrome type 4a
BSND
1693
606412
Bartter syndrome type 4b
CLCNKA
1694
602024
CASR
1620
601199
Cholestasis, infantile, NR1H4 related
NR1H4
2853
603826
Cryptorchidism
RXFP2
2390
606655
Cystinosis, nephropathic
CTNS
371
606272
Cystinuria
PREPL
1743
609557
Cystinuria
SLC3A1
1124
104614
Cystinuria
SLC7A9
1125
604144
Diabetes insipidus, nephrogenic, autosomal
AQP2
19
107777
Dubin-Johnson syndrome
ABCC2
1126
601107
Epstein syndrome
MYH9
179
160775
Estrogen resistance
ESR1
2532
133430
Factor XI deficiency
F11
1815
264900
Factor XII deficiency
F12
1816
610619
F13A1
2272
134570
Fanconi renotubular syndrome type 2
SLC34A1
1776
182309
Fanconi-Bickel syndrome
SLC2A2
390
138160
Focal segmental glomerulosclerosis and dilated cardiomyopath, MT-TY related
MT-TY
2561
590100
Focal segmental glomerulosclerosis type 1
ACTN4
8
604638
Focal segmental glomerulosclerosis type 2
TRPC6
1128
603652
Focal segmental glomerulosclerosis type 3
CD2AP
1512
604241
Focal segmental glomerulosclerosis type 4, susceptibility to
APOL1
2725
603743
Focal segmental glomerulosclerosis type 5
INF2
1129
610982
Focal segmental glomerulosclerosis type 6
MYO1E
2724
601479
Focal segmental glomerulosclerosis type 7
PAX2
1252
167409
Focal segmental glomerulosclerosis type 8
ANLN
2726
616027
Focal segmental glomerulosclerosis type 9
CRB2
2727
609720
Focal segmental glomerulosclerosis, LAMA5 related
LAMA5
2418
601033
FSH releasing protein deficiency
INHBA
2788
147290
Gilbert syndrome
UGT1A1
1448
191740
Gitelman syndrome
SLC12A3
1130
600968
Glomerulosclerosis, focal segmental
ACTN4
8
604638
Glucocorticoid resistance, generalized
NR3C1
2627
138040
Glycine encephalopathy
AMT
1455
238310
Glycine encephalopathy
GLDC
1457
238300
Glycine N-methyltransferase deficiency
GNMT
2488
606628
Goitre, multinodular
KEAP1
2160
606016
Growth hormone deficiency
GH1
1517
139250
Growth hormone deficiency
GHRHR
1518
139191
Growth hormone insensitivity with immunodeficiency
STAT5B
2512
604260
Hemolytic uremic syndrome
ADAMTS13
65
604134
Hemolytic uremic syndrome
CFB
1347
138470
Hemolytic uremic syndrome
CFH
1213
134370
Hemolytic uremic syndrome
CFHR1
1700
134371
Hemolytic uremic syndrome
CFHR2
1818
600889
Hemolytic uremic syndrome
CFHR3
1819
605336
Hemolytic uremic syndrome
CFHR4
1982
605337
Hemolytic uremic syndrome
CFHR5
1318
608593
Hemolytic uremic syndrome
CFI
1214
217030
Hemolytic uremic syndrome
DGKE
1533
601440
Hemolytic uremic syndrome
THBD
1287
188040
Hemolytic uremic syndrome, atypical type 2, susceptibility to
CD46
1215
120920
Hepatic failure, early onset, and neurologic disorder
SCO1
1424
603644
Hepatic venoocclusive disease with immunodeficiency
SP110
2398
604457
Hyperaldosteronism type 3
KCNJ5
1099
600734
Hyperbilirubinemia, Rotor type
SLCO1B1
839
604843
Hyperbilirubinemia, Rotor type
SLCO1B3
599
605495
Hyperparathyroidism type 1, familial
CDC73
2371
607393
Hyperparathyroidism type 2, familial
CDC73
2371
607393
Hypertriglyceridemia, transient infantile
GPD1
2821
138420
Hypogonadotropic hypogonadism
KISS1R
1131
604161
Hypogonadotropic hypogonadism
LHB
1774
152780
Hypogonadotropic hypogonadism
NSMF
1132
608137
Disease
Bartter syndrome, CASR related
Factor XIIIA deficiency
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
65
Gene
Test
code
OMIM Gene
Hypogonadotropic hypogonadism type 3 with or without anosmia
PROKR2
229
607123
Hypogonadotropic hypogonadism type 7 with or without anosmia
GNRHR
100
138850
Hypogonadotropic hypogonadism type 10 with or without anosmia
TAC3
2217
162330
Hypogonadotropic hypogonadism type 11 with or without anosmia
TACR3
102
162332
Hypogonadotropic hypogonadism type 12 with or without anosmia
GNRH1
101
152760
Hypogonadotropic hypogonadism type 15 with or without anosmia
HS6ST1
2632
604846
PTH
2893
168450
GATA3
2836
131320
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE
1701
604934
Hypophosphatemic rickets, autosomal dominant
FGF23
1133
605380
Hypophosphatemic rickets, autosomal recessive type 1
DMP1
1134
600980
Hypophosphatemic rickets, autosomal recessive type 2
ENPP1
2236
173335
Hypophosphatemic rickets, X-linked
PHEX
1135
300550
Hypothyroidism congenital nongoitrous type 1
TSHR
1470
603372
Hypothyroidism congenital nongoitrous type 2, familial
PAX8
1462
167415
Hypothyroidism congenital nongoitrous type 4
TSHB
1469
188540
Hypothyroidism congenital nongoitrous type 6
THRA
1373
190120
Hypothyroidism, isolated, TRHR related
TRHR
2870
188545
Hypotonia-cystinuria syndrome
PREPL
1743
609557
Hypouricemia, renal type 1
SLC22A12
2295
607096
Hypouricemia, renal type 2
SLC2A9
2296
606142
Immunodeficiency with natural killer cell deficiency
MCM4
527
602638
CR2
903
120650
MAGT1
160
300715
Infantile liver failure syndrome type 2
NBAS
2605
608025
Interstitial nephritis karyomegalic
FAN1
449
613534
NR1H4
2853
603826
Johanson Blizzard syndrome
UBR1
1471
605981
Kallmann syndrome type 1
KAL1
142
300836
Kallmann syndrome type 2
FGFR1
1136
136350
Kallmann syndrome type 4
PROK2
228
607002
SEMA3A
1123
603961
Laron syndrome
GHR
1956
600946
Liddle syndrome
SCNN1B
259
600760
Liddle syndrome
SCNN1G
260
600761
Lipoid congenital adrenal hyperplasia
STAR
1466
600617
Lipoprotein glomerulopathy
APOE
18
107741
Liver failure transient infantile
TRMU
46
610230
Lowe oculocerebrorenal syndrome
OCRL
203
300535
LYSINURIC PROTEIN INTOLERANCE
SLC7A7
1929
603593
McKusick-Kaufman syndrome
MKKS
166
604896
Meckel syndrome type 1
MKS1
34
609883
Meckel syndrome type 3
TMEM67
301
609884
Meckel syndrome type 4
CEP290
642
610142
Meckel syndrome type 8
TCTN2
1407
613846
Meckel syndrome type 9
B9D1
1355
614144
Meckel syndrome type 10
B9D2
1356
611951
Medullary cystic kidney disease type 2
UMOD
1139
191845
Menkes disease
ATP7A
25
300011
Multiple endocrine neoplasia type 1
MEN1
81
613733
Nephrogenic syndrome of inapproriate antidiuresis
AVPR2
28
300538
Nephrolithiasis type 1
CLCN5
1840
300008
SLC34A1
1776
182309
Nephronophthisis type 1
NPHP1
190
607100
Nephronophthisis type 2
INVS
1140
243305
Nephronophthisis type 3
NPHP3
1141
608002
Nephronophthisis type 4
NPHP4
1142
607215
Nephronophthisis type 7
GLIS2
1143
608539
Nephronophthisis type 9
NEK8
1391
609799
Nephronophthisis type 12
TTC21B
2001
612014
Nephronophthisis type 13
WDR19
2424
608151
Nephronophthisis type 14
ZNF423
406
604557
Nephronophthisis type 15
CEP164
539
614848
Nephronophthisis type 16
ANKS6
2070
615370
Nephronophthisis type 19
DCDC2
2647
605755
XPNPEP3
1144
613553
Disease
Hypoparathyroidism
Hypoparathyroidism, sensorineural deafness, and renal dysplasia
Immunodeficiency, common variable type 7
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
Intrahepatic cholestasis of pregnancy, NR1H4 related
Kallmann syndrome, SEMA3A related
Nephrolithiasis/osteoporosis, hypophosphatemic, type 1
Nephronophthisis-like nephropathy type 1
66
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Test
code
OMIM Gene
NPHS1
191
602716
NPHS2
1145
604766
Nephrotic syndrome type 2
NPHS1
191
602716
Nephrotic syndrome type 3
PLCE1
2112
608414
Nephrotic syndrome type 5
LAMB2
1702
150325
Nephrotic syndrome type 7
DGKE
1533
601440
Nephrotic syndrome type 8
ARHGDIA
1703
601925
Nephrotic syndrome type 9
ADCK4
2474
615567
Obesity
MC4R
1950
155541
LEP
1951
164160
Obesity with adrenal insufficiency and red hair
POMC
222
176830
Obesity with impaired prohormone processing
PCSK1
2094
162150
Obesity, early-onset, susceptibility to
POMC
222
176830
Obesity, severe
PPARG
2566
601487
Obesity, susceptibility to, SLC6A14 related
SLC6A14
2700
300444
Ovalocytosis
SLC4A1
1704
109270
Pancreatitis
CFTR
370
602421
Pancreatitis
CTRC
475
601405
Pancreatitis
PRSS1
472
276000
Pancreatitis
SPINK1
473
167790
Pancreatitis, chronic, early onset
CPA1
2417
114850
Pancreatitis, chronic, protection against
PRSS2
2260
601564
Panhypopituitarism, X-linked
SOX3
280
313430
CDC73
2371
607393
Pendred syndrome
SLC26A4
988
605646
Pigmented nodular adrenocortical disease type 1, primary
PRKAR1A
1192
188830
Pituitary hormone deficiency, combined type 3
LHX3
1146
600577
Pituitary hormone deficiency, combined type 4
LHX4
1147
602146
Polycystic kidney disease type 1, autosomal dominant
PKD1
1148
601313
Polycystic kidney disease type 1, autosomal recessive
PKHD1
1150
606702
Polycystic kidney disease type 2, autosomal dominant
PKD2
1149
173910
Polycystic liver disease
PRKCSH
2528
177060
Polycystic ovary syndrome type 1
SULT2A1
2096
125263
Polycystic ovary syndrome type 1
SULT2B1
2097
604125
Precocious puberty, male
LHCGR
80
152790
Premature ovarian failure type 1
FMR1
588
309550
CACNA1D
2796
114206
Pseudohypoaldosteronism, type 1, autosomal dominant
NR3C2
82
600983
Pseudohypoaldosteronism, type 1, autosomal recessive
SCNN1A
214
600228
Pseudohypoaldosteronism, type 1, autosomal recessive
SCNN1B
259
600760
Pseudohypoaldosteronism, type 1, autosomal recessive
SCNN1G
260
600761
Pseudohypoaldosteronism, type 2B
WNK4
1705
601844
Pseudohypoparathyroidism type 1A
GNAS
1345
139320
Pseudohypoparathyroidism type 1B
GNAS
1345
139320
Pseudohypoparathyroidism type 1C
GNAS
1345
139320
Pseudopseudohypoparathyroidism
GNAS
1345
139320
Renal cystic dysplasia
BICC1
695
614295
Renal dysfunction due to SLC26A1 deficiency
SLC26A1
2176
610130
Renal glucosuria
SLC5A2
2731
182381
Renal tubular acidosis with deafness
ATP6V1B1
509
192132
Renal tubular acidosis, distal, autosomal recessive
ATP6V0A4
1843
605239
Renal tubular acidosis, proximal, with ocular abnormalities
SLC4A4
1621
603345
Renal tubular acidosis, SLC4A5 related
SLC4A5
1622
606757
Renal tubular dysgenesis
ACE
1841
106180
Renal tubular dysgenesis
AGT
1830
106150
Renal tubular dysgenesis
AGTR1
2471
106165
Renal tubular dysgenesis
REN
1152
179820
CYP2R1
2279
608713
VDR
1276
601769
Senior-Loken syndrome type 6
CEP290
642
610142
Senior-Loken syndrome type 7
SDCCAG8
1327
613524
Senior-Loken syndrome type 8
WDR19
2424
608151
SERKAL syndrome
WNT4
122
603490
Thromocytopenia-Absent-Radius-Syndrome
RBM8A
238
605313
Thyroid dyshormonogenesis type 1
SLC5A5
1465
601843
TPO
1468
606765
Disease
Gene
Nephrosis, Finnish type
Nephrotic syndrome
Obesity due to leptin deficiency
Parathyroid adenoma with cystic changes, familial
Primary aldosteronism, seizures, and neurologic abnormalities
Rickets, vitamin D 25-hydroxylation-deficient, type 1B
Rickets, vitamin D-resistant, type 2A
Thyroid dyshormonogenesis type 2A
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
67
Gene
Test
code
OMIM Gene
Thyroid dyshormonogenesis type 3
TG
1467
188450
Thyroid dyshormonogenesis type 4
IYD
2347
612025
Thyroid dyshormonogenesis type 5
DUOXA2
2346
612772
Thyroid dyshormonogenesis type 6
DUOX1
2137
606758
Thyroid dyshormonogenesis type 6
DUOX2
2138
606759
SECISBP2
1863
607693
THRB
1403
190160
HADHB
1413
143450
CRB2
2727
609720
Vesicoureteral reflux type 2
ROBO2
1153
602431
Vesicoureteral reflux type 3
SOX17
1995
610928
Wilms tumor type 1, familial
WT1
1558
607102
Wolcott-Rallison syndrome
EIF2AK3
1072
604032
Disease
Thyroid hormone metabolism abnormal
Thyroid hormone resistance
Trifunctional protein deficiency
Ventriculomegaly with cystic kidney disease
68
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
› Reproductive Genetics - Panels
Panel name
Genes
Deletion / duplication testing
(genes analyzed)
Test
code
Female infertility panel
BMP15, CYP21A2, FSHR, LHB, LHCGR, ZP1
Global infertility panel
AR, CATSPER1, CFTR, FSHB, FSHR, HESX1, LHB,
AR, CFTR, HESX1, NR5A1, POU1F1
LHCGR, NR5A1, POU1F1, SRY
5201
Male infertility panel
AR, CATSPER1, CFTR, FSHR, LHCGR
5242
CYP21A2
5243
CFTR, AR
SDRHC P
SD
P*
SD
P*
SD
P*
› Reproductive Genetics
Gene
Test
code
OMIM Gene
SRY
1880
480000
46,XY sex reversal type 8, modifier of
AKR1C4
2659
600451
Aromatase deficiency
CYP19A1
1511
107910
Autosomal nonsyndromic male infertility
CATSPER2
1233
607249
Azoospermia induced by Y chromosome microdeletions
AZF region
1881
Cryptorchidism
RXFP2
2390
606655
Deafness and male infertility
STRC
958
606440
Disorders of sex development with cleft palate
FOXF2
2049
603250
Follicle-stimulating hormone deficiency, isolated
FSHB
1772
136530
Guttmacher syndrome
HOXA13
2913
142959
Hand-foot-uterus syndrome
HOXA13
2913
142959
Hydatidiform mole
KHDC3L
1745
611687
Hydatidiform mole
NLRP7
1744
609661
Hypogonadotropic hypogonadism
KISS1
1154
603286
Hypogonadotropic hypogonadism
NSMF
1132
608137
Hypogonadotropic hypogonadism type 6 with or without anosmia
FGF8
1235
600483
WDR11
1447
606417
Hypospadias type 1, X-linked
AR
20
313700
Hypospadias type 2, X-linked
MAMLD1
1199
300120
Leydig cell hypoplasia type 1
LHCGR
80
152790
NANOS1
1535
608226
ZP1
2389
195000
SOHLH1
474
610224
Ovarian dysgenesis type 1
FSHR
1773
136435
Ovarian dysgenesis type 2
BMP15
2388
300247
Persistent Mullerian duct syndrome type 1
AMH
1833
600957
Persistent Mullerian duct syndrome type 2
AMHR2
1834
600956
Preeclampsia/eclampsia type 5
CORIN
2613
605236
Pregnancy loss, recurrent, C4BPA related
C4BPA
2614
120830
HSD17B3
2088
605573
SPGF4
SYCP3
1157
604759
SPGF5
AURKC
1158
603495
SPGF6
SPATA16
1159
609856
SPGF7
CATSPER1
1160
606389
SPGF8
NR5A1
1161
184757
SPGF9
DPY19L2
1162
613893
Disease
46,XX sex reversal type 1
Hypogonadtropic hypogonadism type 14
Oligo-astheno-teratozoospermia
Oocyte maturation defect
Oogenesis dysfunction
Pseudohermaphroditism with gynecomastia
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
D
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SDR
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
69
› Haematological Diseases - Panels
Panel name
Deletion / duplication testing
(genes analyzed)
Genes
Test
code
SDRHC P
S
P*
SD
P*
SD
P*
Afibrinogenemia panel
FGA, FGB, FGG
Agammaglobulinemia panel
BLNK, BTK, CD79A, CD79B, IGHM, IGLL1,
LRRC8A, PIK3R1, SH2D1A
BTK, SH2D1A
5256
B-negative SCID panel
ADA, AK2, DCLRE1C, LIG4, NHEJ1, RAC2,
RAG1, RAG2
DCLRE1C, RAG2
5257
B-positive SCID panel
CD3D, CD3E, CD247, FOXN1, IL2RG, IL7R,
JAK3, ORAI1, PNP, PTPRC, RMRP, STAT5B,
STIM1, TBX1, ZAP70
STAT5B, TBX1
5258
SD
P*
Comprehensive SCID panel
ADA, AK2, CD3D, CD3E, CD247, DCLRE1C,
FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1,
ORAI1, PNP, PTPRC, RAC2, RAG1, RAG2, RMRP,
STAT5B, STIM1, TBX1, ZAP70
TBX1, RAG2, DCLRE1C, STAT5B
5259
SD
P*
Congenital sideroblastic anemia panel
ABCB7, ALAS2, GLRX5, PUS1, SLC19A2,
SLC25A38, TRNT1, YARS2
5300
Hypomagnesemia panel
CLDN16, CLDN19, CNNM2, EGF, FXYD2,
KCNA1, SLC12A3, TRPM6
Megaloblastic anemia panel
AMN, CUBN, GIF
Pheochromocytoma panel
MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC,
SDHD, TMEM127, VHL
Spherocytosis panel
ANK1, EPB42, SLC4A1, SPTA1, SPTB
Thrombocytopenia panel
ADAMTS13, ANKRD26, CYCS, GATA1, GP1BA,
GP1BB, GP9, ITGA2B, ITGB3, MASTL, MPL,
MYH9, RUNX1, WAS
S
SD
S
SD
S
SD
P*
P*
P*
P*
P*
P*
5279
SLC12A3, KCNA1
5274
5074
SDHA, VHL, SDHD, SDHAF2, MAX,
SDHB, SDHC
5019
5117
MYH9, RUNX1
5073
› Haematological Diseases - Large Extended Screening Panels
Panel name
CentoICU platinum
70
Genes
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
Test
code
L P
5288
L P*
V66.1_April2016
Panel name
CentoICU platinum plus
Test
code
Genes
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
L P
5289
L P*
› Haematological Diseases
Disease
Gene
Test
code
OMIM Gene
Accelerated tumor formation, susceptibility to
MDM2
2144
164785
Afibrinogenemia, congenital
FGA
2091
134820
Afibrinogenemia, congenital
FGB
2092
134830
Afibrinogenemia, congenital
FGG
2093
134850
Agammaglobulinemia type 1, autosomal recessive
IGHM
2552
147020
Agammaglobulinemia type 2, autosomal recessive
IGLL1
2553
146770
Agammaglobulinemia type 3, autosomal recessive
CD79A
2550
112205
Agammaglobulinemia type 4, autosomal recessive
BLNK
2606
604515
Agammaglobulinemia type 5, autosomal recessive
LRRC8A
2525
608360
Agammaglobulinemia type 6, autosomal recessive
CD79B
2551
147245
Agammaglobulinemia type 7, autosomal recessive
PIK3R1
2523
171833
Agammaglobulinemia, X-linked
BTK
2024
300300
Anemia, neonatal hemolytic, fatal and near-fatal
SPTB
1855
182870
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
GLRX5
2315
609588
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
SLC25A38
2904
610819
Anemia, sideroblastic, with ataxia
ABCB7
2729
300135
Anemia, sideroblastic, X-linked
ALAS2
2783
301300
Anemia, X-linked
GATA1
66
305371
HP
2789
140100
Bleeding disorder, platelet-type 8
P2RY12
2860
600515
Bleeding disorder, platelet-type 15
ACTN1
2603
102575
Bleeding disorder, platelet-type 17
GFI1B
2837
604383
Bone marrow failure syndrome type 1
SRP72
756
602122
Bone marrow failure syndrome type 2
ERCC6L2
2858
615667
HBG2
2757
142250
PIEZO1
635
611184
HBB
112
141900
Diamond Blackfan anemia type 15 with mandibulofacial dysostosis
RPS28
2699
603685
Diamond-Blackfan anemia type 1
RPS19
1498
603474
Diamond-blackfan anemia type 3
RPS24
1565
602412
Diamond-Blackfan anemia type 4
RPS17
1564
180472
Diamond-Blackfan anemia type 5
RPL35A
1561
180468
Diamond-Blackfan anemia type 6
RPL5
1243
603634
Diamond-Blackfan anemia type 7
RPL11
1560
604175
Anhaptoglobinemia
Cyanosis, transient neonatal
Dehydrated hereditary stomatocytosis
Delta-beta thalassemia
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
71
Gene
Test
code
OMIM Gene
Diamond-Blackfan anemia type 8
RPS7
1563
603658
Diamond-Blackfan anemia type 9
RPS10
1562
603632
Diamond-Blackfan anemia type 10
RPS26
1566
603701
Diamond-Blackfan anemia type 11
RPL26
2696
603704
Diamond-Blackfan anemia type 12
RPL15
2793
604174
Diamond-Blackfan anemia type 13
RPS29
2697
603633
Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis
TSR2
2698
300945
COX4I2
1030
607976
C15orf41
2036
615626
Dyserythropoietic anemia, congenital, type 3
KIF23
2182
605064
Dyserythropoietic anemia, congenital, type 4
KLF1
2177
600599
Erythrocytosis, familial type 1
EPOR
2800
133171
Erythrocytosis, familial type 3
EGLN1
1798
606425
Erythrocytosis, familial type 4
EPAS1
1706
603349
F10
2170
613872
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
CYBA
2172
608508
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
NCF2
2173
608515
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
NCF4
2174
601488
Granulomatous disease, chronic, X-linked
CYBB
998
300481
Hemolytic anemia due to triosephosphate isomerase deficiency
TPI1
2902
190450
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
CD59
2663
107271
Hemolytic anemia, Kell-system related
KEL
2812
613883
Hemophilia B
F9
2309
300746
HBG2
2757
142250
GIF
105
609342
TMPRSS6
2638
609862
KLF1
2177
600599
ITK
1708
186973
CTLA4
2704
123890
Lymphoproliferative syndrome, X-linked type 1
SH2D1A
1184
300490
Lymphoproliferative syndrome, X-linked type 2
XIAP
1185
300079
Megaloblastic anemia type 1
AMN
104
605799
Megaloblastic anemia type 1
CUBN
103
602997
Methemoglobinemia type 1
CYB5R3
2450
613213
Myeloproliferative disorder, chronic, with eosinophilia
PDGFRB
1939
173410
Neutropenia, severe congenital type 1
ELANE
2066
130130
Neutropenia, severe congenital type 3
HAX1
2100
605998
Neutropenia, severe congenital type 5, autosomal recessive
VPS45
2810
610035
Neutrophilia, hereditary
CSF3R
2017
138971
Platelet aggregation disorder
PEAR1
1785
610278
FLI1
2262
193067
RUNX1
71
151385
Platelet glycoprotein IV deficiency
CD36
2897
173510
Protoporphyria, erythropoietic, X-linked
ALAS2
2783
301300
SMARCAL1
1709
606622
SCID autosomal recessive T negative B positive type
JAK3
1203
600173
Sea-blue histiocyte disease
APOE
18
107741
Shwachman-Diamond syndrome
SBDS
252
607444
Sickle cell anemia
HBB
112
141900
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
TRNT1
2905
612907
Spherocytosis type 1
ANK1
2009
612641
Spherocytosis type 2
SPTB
1855
182870
Spherocytosis type 3
SPTA1
1854
182860
Spherocytosis type 5
EPB42
1853
177070
Stormorken syndrome
STIM1
2391
605921
Thalassemia, alpha
HBA1
1519
141800
Thalassemia, alpha
HBA2
1520
141850
Thalassemia, delta
HBD
2128
142000
SLC19A2
2171
603941
MPL
1204
159530
Thrombocytopenia type 2
ANKRD26
2333
610855
Thrombocytopenia type 2
MASTL
70
608221
Thrombocytopenia type 4
CYCS
2767
123970
Thrombocytopenia with beta thalassemia X-linked
GATA1
66
305371
Thrombocytopenia, neonatal alloimmune
ITGA2B
2077
607759
Thrombocytopenia, neonatal alloimmune
ITGB3
2078
173470
Disease
Dyserythropoietic anemia
Dyserythropoietic anemia, congenital, type 1B
Factor X deficiency
Hereditary persistence of fetal hemoglobin
Intrinsic factor deficiency
Iron-refractory iron deficiency anemia
Lutheran inhibitor blood group
Lymphoproliferative syndrome type 1
Lymphoproliferative syndrome, autoimmune, type 5
Platelet dense granule secretion defect, excessive bleeding
Platelet disorder with associated myeloid malignancy
Schimke immunoosseous dysplasia
Thiamine-responsive megaloblastic anemia syndrome
Thrombocytopenia congenital amegakaryocytic
72
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Gene
Test
code
OMIM Gene
Thrombocytopenia, X-linked
GATA1
66
305371
Thrombocytopenia, X-linked, intermittent
WAS
72
300392
Thrombocytosis, familial, JAK2 related
JAK2
625
147796
F9
2309
300746
ADAMTS13
65
604134
TBXAS1
2428
274180
VWF
1328
613160
GP1BA
67
606672
Thrombophilia, X-linked, due to factor IX defect
Thrombotic thrombocytopenic purpura
Thromboxane synthase deficiency
von Willebrand disease
von Willebrand disease platelet type
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
73
› Malformation and Retardation Syndromes - Panels
Panel name
74
Genes
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
S
P*
Arthrogryposis panel
TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8,
FBN2, PIEZO2, ECEL1, DOK7, RAPSN
5033
Ashkenazi panel (basic)
HEXA (7 mutations), IKBKAP (2 mut), ASPA
(4 mut), MCOLN1 (2 mut), FANCC (2 mut),
SMPD1 (4 mut), BLM (1 mut)
5116
S
P*
Ashkenazi panel (advanced)
GBA (8 mutations), CFTR (31 mut), HEXA (7
mut), IKBKAP (2 mut), ASPA (4 mut), G6PC
(2 mut) ABCC8 (2 mut), MCOLN1 (2 mut),
BCKDHB (3 mut), FANCC (2 mut), DLD (2 mut),
SMPD1 (4 mut), CLRN1 (1 mut), PCDH15
(1mut), BLM (1 mut), NEB (1 mut), BRCA1 (2
mut), BRCA2 (1 mut)
5110
S
P*
Central hypoventilation syndrome panel
RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A,
PHOX2B, ZEB2, GFRA1, ECE1, MECP2
ASCL1, BDNF, GDNF, ZEB2, EDN3,
MECP2, PHOX2B, RET, GFRA1
5076
Cerebral cavernous malformations panel
CCM2, KRIT1, PDCD10
KRIT1, PDCD10, CCM2
5275
Cleft lip/palate panel
BMP4, IRF6, MSX1, PVRL1, SUMO1, TP63
IRF6, BMP4
5292
Coffin-Siris syndrome panel
ARID1A, ARID1B, SMARCA4, SMARCB1,
SMARCE1
SMARCB1, ARID1B, ARID1A
5080
S
S
S
S
Craniosynostosis and craniofacial disorders
panel
EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1,
GLI3, IFT43, IFT122, IL11RA, MEGF8, MSX2,
POR, RAB23, RECQL4, SKI, TCF12, TGFBR1,
TGFBR2, TWIST1, WDR19, WDR35
MSX2, TGFBR1, EFNB1, FGFR1,
POR, FGFR3, FGFR2, GLI3, TGFBR2,
TWIST1
5248
SD
P*
Heterotaxy panel
ACVR2B, CFAP53, CFC1, CRELD1, FOXH1,
GDF1, LEFTY2, MMP21, NKX2-5, NODAL, ZIC3
NKX2-5, ACVR2B, ZIC3, CFC1,
NODAL
5210
Hirschsprung disease panel
ECE1, EDN3, EDNRB, GDNF, KIAA1279, NRG1,
NRTN, RET, SOX10, ZEB2
SOX10, GDNF, ZEB2, EDN3, EDNRB,
NRTN, RET
5077
Holoprosencephaly panel
CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3,
TGIF1, ZIC2
SHH, GLI2, PTCH1, SIX3, TGIF1,
GLI3, ZIC2
5088
Klippel-feil syndrome panel
GDF3, GDF6, MEOX1, MYO18B
Metaphyseal dysplasia panel
ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX32, RMRP, RUNX2
CDKN1C, RUNX2, FLNA
5213
S
S
S
S
S
D
P*
P*
P*
P*
P*
Microcephaly panel
AKT3, AP4M1, ASPM, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, DNM1L, EFTUD2,
IER3IP1, KIF11, MCPH1, MRE11A, MSMO1,
NDE1, NHEJ1, NR2E1, PAFAH1B1, PCNT, PNKP,
POMT1, SLC25A19, STIL, TUBB2B, TUBGCP6,
WDR62
STIL, MCPH1, CASK, POMT1, CDK5RAP2, ASPM, CENPJ, PAFAH1B1
5070
SD
P*
Multiple epiphyseal dysplasia panel
COL2A1, COL9A1, COL9A2, COL9A3, COMP,
MATN3, SLC26A2
COL2A1
5215
SD
P*
Noonan - CFC syndrome panel
BRAF, CBL, HRAS, MAP2K1, KRAS, MAP2K2,
NF1, NRAS, RAF1, PTPN11, SHOC2, SOS1,
SPRED1
NF1, SPRED1
5018
Seckel syndrome panel
ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP
ATR, CENPJ
5040
Skeletal dysplasia ciliopathy NGS panel
DYNC2H1, EVC, EVC2, IFT43, IFT80, IFT122,
IFT140, IFT172, NEK1, TCTN3, TTC21B, WDR19,
WDR34, WDR35, WDR60
5250
SD
SD
S
P*
P*
P*
Skeletal dysplasia extended NGS panel
ALPL, ARSE, COL10A1, COL11A1, COL11A2,
COL1A1, COL1A2, COL2A1, DDR2, EBP, FGFR3,
FLNB, HSPG2, INPPL1, LBR, LIFR, MMP13,
COL1A1, FLNB, FGFR3, SOX9,
MMP9, NKX3-2, NSDHL, PEX7, PTH1R, RMRP,
COL1A2, COL2A1, COL11A1
SBDS, SLC26A2, SLC35D1, SOX9, TRIP11,
TRPV4
5251
SD
P*
Tuberous sclerosis panel
TSC1, TSC2
5107
SD
P*
5291
TSC1, TSC2
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
DR
D
D
D
D
D
D
P*
P*
P*
P*
V66.1_April2016
› Malformation and Retardation Syndromes - Large Extended Screening Panels
Panel name
CentoICU platinum
CentoICU platinum plus
Test
code
Genes
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
5288
AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB,
ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9,
AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3,
ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B,
ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65,
C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D,
CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3,
CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15,
CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH,
DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3,
ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH,
FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1,
G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2,
GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2,
GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A,
HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1,
IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2,
KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3,
LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1,
MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS,
NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2,
NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1,
OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22,
PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1,
PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1,
RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1,
SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13,
SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6,
SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL,
STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA,
TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG,
UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
5289
L P
L P*
L P*
› Malformation and Retardation Syndromes
Disease
Gene
Test
code
OMIM Gene
Achondrogenesis type 2
COL2A1
943
120140
Acrodysostosis type 1, with or without hormone resistance
PRKAR1A
1192
188830
Acromelic frontonasal dysostosis
ZSWIM6
2454
615951
Acromesomelic dysplasia, Maroteaux type
NPR2
1969
108961
ADULT syndrome, split hand-foot malformation
TP63
304
603273
GMPPA
2162
615495
Alacrima, achalasia and mental retardation syndrome
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
75
Gene
Test
code
OMIM Gene
Alagille syndrome type 1
JAG1
1206
601920
Alagille syndrome type 2
NOTCH2
1207
600275
LARP7
2187
612026
Ankyloblepharon-ectodermal defects-cleft lip/palate
TP63
304
603273
Anterior segment mesenchymal dysgenesis
PITX3
2571
602669
Antley-Bixler syndrome
FGFR2
1730
176943
Apert syndrome
FGFR2
1730
176943
Athabaskan brainstem dysgenesis syndrome
HOXA1
1208
142955
Atrial septal defect type 2
GATA4
1209
600576
Atrial septal defect with atrioventricular conduction defects
NKX2-5
1210
600584
Atrioventricular septal defect, partial with heterotaxy syndrome
CRELD1
2039
607170
Auriculocondylar syndrome type 2
PLCB4
1015
600810
Axenfeld-Rieger syndrome type 1
PITX2
216
601542
Axenfeld-Rieger syndrome type 3
FOXC1
888
601090
Bainbridge-Ropers syndrome
ASXL3
2111
615115
RECQL4
239
603780
Band-like calcification with simplified gyration and polymicrogyria
OCLN
1710
602876
Baraitser-Winter syndrome 1
ACTB
779
102630
Baraitser-Winter syndrome 2
ACTG1
989
102560
Basal cell nevus syndrome
PTCH1
1216
601309
Basal cell nevus syndrome
SUFU
2360
607035
Basal ganglia calcification type 3
SLC20A2
1329
158378
Basal ganglia calcification type 4
PDGFRB
1939
173410
Basal ganglia calcification type 5, idiopathic
PDGFB
1801
190040
Basal ganglia calcification type 6, idiopathic
XPR1
2881
605237
Beta-ureidopropionase deficiency
UPB1
2466
606673
FREM1
1534
608944
Birt-Hogg-Dube syndrome
FLCN
55
607273
Bjornstad syndrome
BCS1L
1423
603647
Blau syndrome
NOD2
2310
605956
Bohring-Opitz syndrome
ASXL1
2280
612990
ERCC6L2
2858
615667
Brachydactyly type A1
GDF5
1920
601146
Brachydactyly type A2
BMP2
1491
112261
Brachydactyly type A2
BMPR1B
1324
603248
Brachydactyly type B1
ROR2
244
602337
Brachydactyly type E1
HOXD13
1975
142989
Brachydactyly-mental retardation syndrome
HDAC4
1363
605314
Brachydactyly-syndactyly syndrome
HOXD13
1975
142989
Branchiooculofacial syndrome
TFAP2A
2509
107580
C syndrome
CD96
1839
606037
Campomelic dysplasia
SOX9
1218
608160
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PRG4
2524
604283
Camurati-Engelmann disease
TGFB1
293
190180
Cantu syndrome
ABCC9
1082
601439
Carpenter syndrome
RAB23
2423
606144
Carpenter syndrome type 2
MEGF8
2422
604267
Central hypoventilation syndrome with or without Hirschsprung disease
PHOX2B
740
603851
Central hypoventilation syndrome, congenital
ASCL1
712
100790
Central hypoventilation syndrome, congenital
BDNF
1494
113505
Central hypoventilation syndrome, congenital
ECE1
1497
600423
Central hypoventilation syndrome, congenital
EDN3
1493
131242
Central hypoventilation syndrome, congenital
GDNF
1492
600837
Central hypoventilation syndrome, congenital
GFRA1
1496
601496
Central hypoventilation syndrome, congenital
MECP2
163
300005
Central hypoventilation syndrome, congenital
PHOX2A
1033
602753
Central hypoventilation syndrome, congenital
RET
240
164761
Central hypoventilation syndrome, congenital
ZEB2
1495
605802
SNAP29
1220
604202
Cerebrooculofacioskeletal syndrome type 1
ERCC6
1822
609413
Cerebrooculofacioskeletal syndrome type 4
ERCC1
1330
126380
CHARGE syndrome
CHD7
1221
608892
CHIME syndrome
PIGL
1331
605947
PTH1R
2447
168468
CHM
1333
300390
BMPR1B
1324
603248
Disease
Alazami syndrome
Baller-Gerold syndrome
Bifid nose
Bone marrow failure syndrome type 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
Chondrodysplasia, Blomstrand type
Choroideremia
Chrondrodysplasia, acromesomelic, with genital anomalies
76
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SDR
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Chudley-McCullough syndrome
Gene
Test
code
OMIM Gene
GPSM2
1713
609245
Club foot
PITX1
734
602149
Cockayne syndrome type A
ERCC8
1862
CODAS syndrome
LONP1
2601
605490
SMARCE1
1510
603111
Cold-induced sweating syndrome
CRLF1
2126
604237
Cold-induced sweating syndrome type 2
CLCF1
2127
607672
Congenital heart disease and transposition of the great arteries
FOXH1
2041
603621
Congenital short-bowel syndrome
CLMP
1334
611693
ARX
24
300382
LAMC3
1714
604349
Costello syndrome
HRAS
1222
190020
Cousin syndrome
TBX15
2484
604127
Craniodiaphyseal dysplasia, autosomal dominant
SOST
2427
605740
Cranioectodermal dysplasia type 1
IFT122
2421
606045
Cranioectodermal dysplasia type 2
WDR35
2425
613602
Cranioectodermal dysplasia type 3
IFT43
2420
614068
Cranioectodermal dysplasia type 4
WDR19
2424
608151
Craniofacial and neuro-developmental abnormalities
DISP1
2281
607502
Craniofacial and neuro-developmental abnormalities, JAG2 related
JAG2
2019
602570
Craniofacial anomalies and anterior segment dysgenesis syndrome
VSX1
2900
605020
Craniofrontonasal syndrome
EFNB1
1846
300035
Craniometaphyseal dysplasia
ANKH
2084
605145
Craniosynostosis and dental anomalies
IL11RA
2185
600939
Craniosynostosis type 1
TWIST1
1541
601622
Craniosynostosis type 2
MSX2
171
123101
Craniosynostosis type 3
TCF12
2047
600480
Craniosynostosis type 4
ERF
2419
611888
Craniosynostosis, FGFR1 related
FGFR1
1136
136350
Craniosynostosis, nonspecific
FGFR2
1730
176943
Crouzon syndrome
FGFR2
1730
176943
Currarino syndrome
MNX1
1223
142994
Czech dysplasia
COL2A1
943
120140
Dandy-Walker malformation and occipital cephaloceles, LAMC1 related
LAMC1
2629
150290
Desbuquois dysplasia
CANT1
2568
613165
Desbuquois dysplasia type 2
XYLT1
2483
608124
DHCR24
2621
606418
Diamond Blackfan anemia type 15 with mandibulofacial dysostosis
RPS28
2699
603685
Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis
TSR2
2698
300945
DiGeorge syndrome
TBX1
1224
602054
Donnai-Barrow syndrome
LRP2
1904
600073
TBC1D24
783
613577
SALL4
251
607343
HMG20B
2011
605535
Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3
TP63
304
603273
Ellis-van Creveld syndrome
EVC2
2274
607261
Ellis-van Creveld syndrome
EVC
2273
604831
COL2A1
943
120140
Faciogenital dysplasia
FGD1
315
300546
Fanconi anemia, complementation group Q
ERCC4
2543
133520
Feingold syndrome
MYCN
1226
164840
Fetal akinesia deformation sequence
DOK7
1227
610285
Fetal akinesia deformation sequence
RAPSN
1228
601592
Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
WNT7A
327
601570
FILS syndrome
POLE
2876
174762
Fraser syndrome
FRAS1
8001
607830
Fraser syndrome
FREM2
1756
608945
Fraser syndrome
GRIP1
1212
604597
Frontonasal dysplasia type 1
ALX3
2197
606014
FH
1335
136850
Galloway-Mowat syndrome
WDR73
2405
616144
Genitopatellar syndrome
KAT6B
1336
605880
Glass syndrome
SATB2
2292
612313
KIAA1279
1229
609367
BCS1L
1423
603647
LBR
2446
600024
Coffin-Siris syndrome, SMARCE1 related
Corpus callosum, agenesis of, with abnormal genitalia
Cortical malformations, occipital
Desmosterolosis
DOOR syndrome
Duane Retraction syndrome
Dysmorphism, HMG20B related
Epiphyseal dysplasia, multiple, with myopia and deafness
Fumarase deficiency
Goldberg-Shprintzen megacolon syndrome
GRACILE syndrome
Greenberg skeletal dysplasia
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
77
Disease
Test
code
OMIM Gene
Greig cephalopolysyndactyly syndrome
GLI3
128
165240
Growth retardation with deafness and mental retardation due to IGF1 deficiency
IGF1
1677
147440
HOXA13
2913
142959
IRX5
1088
606195
HOXA13
2913
142959
Hartsfield syndrome
FGFR1
1136
136350
Heart-hand syndrome, Slovenian type
LMNA
158
150330
Helsmoortel-van der Aa syndrome
ADNP
2400
611386
Hemimegalencephaly
AKT3
1337
611223
Hennekam lymphangiectasia-lymphedema syndrome type 2
FAT4
2580
612411
Heterotaxy, visceral type 1
ZIC3
2044
300265
Heterotaxy, visceral type 2
CFC1
2038
605194
Heterotaxy, visceral type 4
ACVR2B
2037
602730
Heterotaxy, visceral type 5
NODAL
2043
601265
Heterotaxy, visceral type 6
CFAP53
2888
614759
Heterotaxy, visceral type 7
MMP21
2889
608416
Heterotaxy, visceral, BCL9L related
BCL9L
2641
609004
Hirschsprung disease
ECE1
1497
600423
Hirschsprung disease
EDN3
1493
131242
Hirschsprung disease
EDNRB
194
131244
Hirschsprung disease
GDNF
1492
600837
Hirschsprung disease
KIAA1279
1229
609367
Hirschsprung disease
NRG1
1500
142445
Hirschsprung disease
NRTN
1501
602018
Hirschsprung disease
RET
240
164761
Hirschsprung disease
ZEB2
1495
605802
Holoprosencephaly type 2
SIX3
1338
603714
Holoprosencephaly type 3
SHH
1339
600725
Holoprosencephaly type 4
TGIF1
1715
602630
Holoprosencephaly type 5
ZIC2
1340
603073
Holoprosencephaly type 11
CDON
1717
608707
Holoprosencephaly-type 9
GLI2
1716
165230
Holt-Oram syndrome
TBX5
1230
601620
Hutchinson-Gilford progeria
LMNA
158
150330
Hydranencephaly, Fowler type
FLVCR2
2340
610865
Hydrolethalus syndrome
HYLS1
139
610693
Hypermethioninemia due to adenosine kinase deficiency
ADK
2602
102750
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
AHCY
2485
180960
Hyperphosphatasia with mental retardation syndrome type 1
PIGV
2497
610274
Hyperphosphatasia with mental retardation syndrome type 2
PIGO
1251
614730
Hyperphosphatasia with mental retardation syndrome type 3
PGAP2
2519
615187
Hyperphosphatasia with mental retardation syndrome type 4
PGAP3
2453
611801
Hyperphosphatasia with mental retardation syndrome type 5
PIGW
2396
610275
DCAF17
1231
612515
FGF8
1235
600483
Hypospadias type 1, X-linked
AR
20
313700
Hypospadias type 2, X-linked
MAMLD1
1199
300120
IMAGE syndrome
CDKN1C
1164
600856
Immunodeficiency-centromeric instability-facial anomalies syndrome type 2
ZBTB24
2464
614064
Intestinal atresia, multiple
TTC7A
1718
609332
IVIC syndrome
SALL4
251
607343
Jackson-Weiss syndrome
FGFR1
1136
136350
Jackson-Weiss syndrome
FGFR2
1730
176943
Jawad syndrome
RBBP8
790
604124
Kabuki syndrome type 1
KMT2D
1232
602113
Kabuki syndrome type 2
KDM6A
720
300128
Kallmann syndrome
CHD7
1221
608892
Kallmann syndrome
FGFR1
1136
136350
Kallmann syndrome
KAL1
142
300836
PROK2
228
607002
ANKRD11
1842
611192
MGP
1925
154870
EHMT1
1236
607001
Klippel-Feil syndrome type 1, autosomal dominant
GDF6
1997
601147
Klippel-Feil syndrome type 2, autosomal dominant
MEOX1
2473
600147
Klippel-Feil syndrome type 3, autosomal dominant
GDF3
1948
606522
Guttmacher syndrome
Hamamy syndrome
Hand-foot-uterus syndrome
Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal syndrome
Hypogonadotropic hypogonadism type 6 with or without anosmia
Kallmann syndrome type 2
KBG syndrome
Keutel syndrome
Kleefstra syndrome
78
Gene
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SDR
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Gene
Test
code
OMIM Gene
Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism
MYO18B
2816
607295
Kniest dysplasia
COL2A1
943
120140
Koolen syndrome
KANSL1
1079
612452
LADD syndrome
FGF10
1453
602115
LADD syndrome
FGFR2
1730
176943
Langer-Giedion syndrome
EXT1
1733
608177
Langer-Giedion syndrome
TRPS1
120
604386
Larsen syndrome
FLNB
1884
603381
Left-right axis malformations
LEFTY2
2042
601877
Lenz-Majewski hyperostotic dwarfism
PTDSS1
2426
612792
LEOPARD syndrome type 3
BRAF
1078
164757
Lethal congenital contracture syndrome type 1
GLE1
2878
603371
Lethal congenital contracture syndrome type 4
MYBPC1
992
160794
TP63
304
603273
Lissencephaly type 1
PAFAH1B1
1238
601545
Lissencephaly type 2
RELN
63
600514
Lissencephaly type 3
TUBA1A
1239
602529
Lissencephaly type 5
LAMB1
1537
150240
Lissencephaly, X-linked type 1
DCX
813
300121
Lissencephaly, X-linked type 2
ARX
24
300382
Lujan-Fryns syndrome
MED12
164
300188
Lymphedema-distichiasis syndrome
FOXC2
1817
602402
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
POLD1
2875
174761
Mandibuloacral dysplasia
LMNA
158
150330
Mandibulofacial dysostosis with microcephaly
EFTUD2
1103
603892
Marden-Walker syndrome
PIEZO2
2397
613629
RAB3GAP2
1619
609275
XK
2208
314850
PIK3R2
1885
603157
Meier-Gorlin syndrome 4
CDT1
1927
605525
Meier-Gorlin syndrome type 1
ORC1
1891
601902
Mental retardation and distinctive facial features with or without cardiac defects
MED13L
2912
608771
Metaphyseal anadysplasia type 1
MMP13
2087
600108
Metaphyseal anadysplasia type 2
MMP9
2086
120361
Metaphyseal dysplasia without hypotrichosis
RMRP
2083
157660
Microcephalic osteodysplastic primordial dwarfism type 1
RNU4ATAC
1983
601428
Microcephalic osteodysplastic primordial dwarfism type 2
PCNT
1869
605925
TUBGCP6
751
610053
Microcephaly with cortical malformations, autosomal recessive type 2
WDR62
1242
613583
Microcephaly with epilepsy and diabetes syndrome
IER3IP1
806
609382
Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR
KIF11
1343
148760
Microcephaly with symplified gyral pattern and insulin-dependant diabetes
GFM2
1182
606544
SLC25A19
487
606521
Microcephaly, AP4M1 related
AP4M1
1069
602296
Microcephaly, autosomal recessive type 1
MCPH1
659
607117
Microcephaly, autosomal recessive type 3
CDK5RAP2
1341
608201
Microcephaly, autosomal recessive type 4
CASC5
2016
609173
Microcephaly, autosomal recessive type 5
ASPM
660
605481
Microcephaly, autosomal recessive type 6
CENPJ
1342
609279
Microcephaly, autosomal recessive type 7
STIL
661
181590
Microcephaly, autosomal recessive type 8
CEP135
1014
611423
Microcephaly, autosomal recessive type 9
CEP152
1077
613529
Microcephaly, autosomal recessive type 11
PHC1
2637
602978
Microcephaly, autosomal recessive type 12
CDK6
2150
603368
Microcephaly, autosomal recessive type 13
CENPE
2635
117143
Microcephaly, CEP63 related
CEP63
738
614724
Microcephaly, MRE11A related
MRE11A
1151
600814
Microcephaly, MSMO1 related
MSMO1
938
607545
QARS
2745
603727
Microcephaly, TUBB2B related
TUBB2B
477
612850
Miller Dieker lissencephaly syndrome
YWHAE
64
605066
Mitochondrial complex III deficiency, nuclear type 7
UQCC2
2873
614461
Mitochondrial myopathy and sideroblastic anemia type 1
PUS1
44
608109
Multiple congenital anomalies-hypotonia-seizures syndrome type 1
PIGN
1916
606097
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
B3GAT3
1897
606374
Myhre syndrome
SMAD4
277
600993
Disease
Limb-mammary syndrome
Martsolf syndrome
McLeod syndrome with or without chronic granulomatous disease
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Microcephaly and chorioretinopathy with or without mental retardation
Microcephaly, Amish type
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
79
Gene
Test
code
OMIM Gene
Native American myopathy
STAC3
2665
615521
Neuroaxonal neurodegeneration, infantile, with facial dysmophism
NALCN
2363
611549
ALK
1747
105590
Nicolaides Baraitser syndrome
SMARCA2
946
600014
Nijmegen breakage syndrome
NBN
344
602667
Noonan syndrom like
SHOC2
1244
602775
Noonan syndrome type 1
PTPN11
1245
176876
Noonan syndrome type 3
KRAS
152
190070
Noonan syndrome type 4
SOS1
1246
182530
Noonan syndrome type 5
RAF1
1247
164760
Noonan syndrome type 6
NRAS
1248
164790
Noonan syndrome type 7
BRAF
1078
164757
Noonan syndrome type 8
RIT1
2392
609591
Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia
CBL
115
165360
Oculodentodigital dysplasia
GJA1
1250
121014
Ogden syndrome
NAA10
2351
300013
Olmsted syndrome
TRPV3
739
607066
Opitz-Kaveggia syndrome
MED12
164
300188
Orofacial cleft type 5
MSX1
170
142983
Orofacial cleft type 6
IRF6
2826
607199
Orofacial cleft type 7
PVRL1
2828
600644
Orofacial cleft type 10
SUMO1
2827
601912
Orofacial cleft type 11
BMP4
891
112262
Orofaciodigital syndrome type 4
TCTN3
2200
613847
Orofaciodigital syndrome type 5
DDX59
2110
615464
Orofaciodigital syndrome type 14
C2CD3
2278
615944
Osteoglophonic dysplasia
FGFR1
1136
136350
Otofaciocervical syndrome
EYA1
125
601653
Otospondylomegaepiphyseal dysplasia
COL2A1
943
120140
Otospondylomegaepiphyseal dysplasia
COL11A2
945
120290
Pallister-Hall syndrome
GLI3
128
165240
Papillorenal syndrome
PAX2
1252
167409
Parietal foramina type 1
MSX2
171
123101
LBR
2446
600024
Pelvic organ prolapse, LAMC1 related
LAMC1
2629
150290
Perlman Syndrome
DIS3L2
1344
614184
Pfeiffer syndrome
FGFR1
1136
136350
Pfeiffer syndrome
FGFR2
1730
176943
chr. 22q13.3
2899
Pitt-Hopkins syndrome
NRXN1
1254
600565
Pitt-Hopkins syndrome
TCF4
1253
602272
AIP
1557
605555
Pituitary hormone deficiency type 1
POU1F1
1255
173110
Pituitary hormone deficiency type 2
PROP1
1256
601538
Platyspondylic skeletal dysplasia, Torrance type
COL2A1
943
120140
Polymicrogyria asymmetric
TUBB2B
477
612850
Polymicrogyria bilateral frontoparietal
GPR56
1720
604110
Polymicrogyria bilateral occipital
NR2E1
631
603849
Polymicrogyria with optic nerve hypoplasia
TUBA8
1721
605742
Polymicrogyria with seizures
RTTN
1719
610436
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
PI4KA
2762
600286
Popliteal pterygium syndrome type 1
IRF6
2826
607199
Popliteal pterygium syndrome, lethal type
RIPK4
1974
605706
Porencephaly, familial
COL4A1
1257
120130
Poretti-Boltshauser syndrome
LAMA1
2498
150320
Postaxial acrofacial dysostosis
DHODH
1258
126064
PEPD
2206
613230
Prune belly syndrome
CHRM3
2857
118494
RAPADILINO syndrome
RECQL4
239
603780
TP63
304
603273
Rett syndrome
MECP2
163
300005
Rett syndrome, congenital variant
FOXG1
1259
164874
Rhizomelic chondrodysplasia punctata type 2
GNPAT
1957
602744
Rhizomelic chondrodysplasia punctata type 3
AGPS
1374
603051
HNRNPU
1913
602869
ESCO2
1260
609353
Disease
Neuroblastoma type 3, susceptibility to, familial
Pelger-Huet anomaly
Phelan-McDermid syndrome
Pituitary adenoma, growth hormone-secreting
Prolidase deficiency
Rapp-Hodgkin syndrome
RNA processing related disorders
Roberts syndrome
80
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
D
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Disease
Gene
Test
code
OMIM Gene
Robinow syndrome, autosomal dominant type 1
WNT5A
123
164975
Robinow syndrome, autosomal dominant type 2
DVL1
2675
601365
Robinow syndrome, autosomal recessive
ROR2
244
602337
Robinow-Sorauf syndrome
TWIST1
1541
601622
Rothmund-Thomson syndrome
RECQL4
239
603780
Rubinstein-Taybi syndrome
CREBBP
1261
600140
Rubinstein-Taybi syndrome
EP300
1262
602700
Saethre-Chotzen syndrome
FGFR2
1730
176943
Saethre-Chotzen syndrome
TWIST1
1541
601622
SC Phocomelia syndrome
ESCO2
1260
609353
Scaphocephaly, maxillary retrusion, and mental retardation
FGFR2
1730
176943
Schaaf-Yang syndrome
MAGEL2
2820
605283
Schinzel-Giedion midface retraction syndrome
SETBP1
2203
611060
EMX2
1722
600035
SLC35D1
2448
610804
Sclerosteosis type 1
SOST
2427
605740
Seckel syndrome
ATRIP
1852
606605
Seckel syndrome type 1
ATR
1851
601215
Seckel syndrome type 2
RBBP8
790
604124
Seckel syndrome type 4
CENPJ
1342
609279
Seckel syndrome type 5
CEP152
1077
613529
Seckel syndrome type 6
CEP63
738
614724
Seckel syndrome type 7
NIN
2636
608684
COL2A1
943
120140
Septooptic dysplasia
HESX1
1265
601802
SERKAL syndrome
WNT4
122
603490
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to
ionizing radiation
NHEJ1
1211
611290
Short stature syndrome
GHR
1956
600946
Short stature syndrome
SHOX
1360
312865
Short stature, microcephaly, and endocrine dysfunction
XRCC4
2798
194363
Short stature, optic nerve atrophy, and Pelger-Huet anomaly
NBAS
2605
608025
SHORT syndrome
PIK3R1
2523
171833
Short-rib thoracic dysplasia type 2 with or without polydactyly
IFT80
2440
611177
Short-rib thoracic dysplasia type 3 with or without polydactyly
DYNC2H1
2438
603297
Short-rib thoracic dysplasia type 4 with or without polydactyly
TTC21B
2001
612014
Short-rib thoracic dysplasia type 5 with or without polydactyly
WDR19
2424
608151
Short-rib thoracic dysplasia type 6 with or without polydactyly
NEK1
1984
604588
Short-rib thoracic dysplasia type 7 with or without polydactyly
WDR35
2425
613602
Short-rib thoracic dysplasia type 8 with or without polydactyly
WDR60
2444
615462
Short-rib thoracic dysplasia type 10 with or without polydactyly
IFT172
2441
607386
Short-rib thoracic dysplasia type 11 with or without polydactyly
WDR34
2442
613363
SKI
88
164780
CBFB
1996
121360
SMED Strudwick type
COL2A1
943
120140
Smith-Lemli-Opitz syndrome
DHCR7
1809
602858
Sotos syndrome type 1
NSD1
201
606681
Sotos-like syndrome
NFIX
1277
164005
Speech-language disorder type 1
FOXP2
1266
605317
Spina bifida folate sensitive
MTRR
982
602568
Split-hand/foot malformation type 1 with sensorineural hearing loss
DLX5
2249
600028
WNT10B
2250
601906
TBX6
2802
602427
Spondylo-megaepiphyseal-metaphyseal dysplasia
NKX3-2
2085
602183
Spondyloperipheral dysplasia
COL2A1
943
120140
Stuve-Wiedemann syndrome
LIFR
1267
151443
Syndactyly type 1
HOXD13
1975
142989
Syndactyly type 5
HOXD13
1975
142989
TANC2 related brain disorders
TANC2
1943
615047
Temple-Baraitser syndrome
KCNH1
2792
603305
Tetraamelia, autosomal recessive
WNT3
1268
165330
Three M syndrome type 1
CUL7
1269
609577
Three M syndrome type 2
OBSL1
1952
610991
Three M syndrome type 3
CCDC8
2468
614145
Toe syndactyly, telecanthus, and anogenital and renal malformations
FAM58A
1270
300708
MSX1
170
142983
Schizencephaly
Schneckenbecken dysplasia
SED congenita
Shprintzen-Goldberg syndrome
Skeletal abnormalities, CBFB related
Split-hand/foot malformation type 6
Spondylocostal dysostosis type 5
Tooth agenesis, selective type 1
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
S
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
81
Gene
Test
code
OMIM Gene
Tooth agenesis, selective type 3
PAX9
1205
167416
Townes-Brocks syndrome
SALL1
1271
602218
Transposition of great arteries, dextro-looped 3
GDF1
2040
602880
MED13L
2912
608771
Treacher Collins syndrome type 1
TCOF1
2130
606847
Treacher Collins syndrome type 2
POLR1D
2178
613715
Treacher Collins syndrome type 3
POLR1C
2179
610060
Trigonocephaly type 1
FGFR1
1136
136350
Ulna and fibula, absence of, with severe limb deficiency
WNT7A
327
601570
Ulnar-Mammary syndrome
TBX3
1272
601621
Urofacial syndrome
LRIG2
1524
608869
Van den Ende-Gupta syndrome
SCARF2
1882
613619
van der Woude syndrome type 1
IRF6
2826
607199
van der Woude syndrome type 2
GRHL3
1892
608317
Van Maldergem syndrome type 2
FAT4
2580
612411
HOXD13
1975
142989
EPG5
2090
615068
ACTG2
2882
102545
Warburg micro syndrome type 1
RAB3GAP1
237
602536
Warburg micro syndrome type 2
RAB3GAP2
1619
609275
DDX11
2690
601150
EZH2
1872
601573
Webb-Dattani syndrome
ARNT2
2781
606036
Weill-Marchesani syndrome type 3
LTBP2
887
602091
Werner syndrome
WRN
2545
604611
KMT2A
1432
159555
chr. 7q11.23
2760
Disease
Transposition of the great arteries, dextro-looped 1
Vater association
Vici syndrome
Visceral myopathy
Warsaw breakage syndrome
Weaver syndrome
Wiedemann-Steiner syndrome
Williams-Beuren syndrome
82
Witkop syndrome
MSX1
170
142983
XFE progeroid syndrome
ERCC4
2543
133520
ZIC1 related brain disorders
ZIC1
2198
600470
ZIC5 related brain disorders
ZIC5
2199
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
D
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
› Oncogenetics - Panels
Panel name
Genes
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
C P*
S D H P*
SD
P*
BRCA1, BRCA2 somatic mutation analysis
BRCA1, BRCA2
BRCA1/BRCA2 panel
BRCA1, BRCA2
BRCA2, BRCA1
5046
Breast ovarian cancer panel
CDH1, PTEN, STK11, TP53
STK11, TP53, PTEN, CDH1
5228
Breast ovarian cancer panel PLUS
ATM, BARD1, BRIP1, CHEK2, MEN1, MLH1,
MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2,
PMS1, PMS2, RAD50, RAD51C, RAD51D,
XRCC2
MSH2, CHEK2, BRIP1, RAD51D,
RAD50, RAD51C, PMS2, PALB2,
MSH6, MEN1, MLH1, ATM, MUTYH
5229
Cancer Hotspot Panel
covering most frequent mutations in genes
ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1,
CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2,
ERBB4, EZH2, FBXW7, FGFR1, FGFR2, FGFR3,
GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1,
IDH2, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1,
MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA,
PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1,
SMO, SRC, STK11, TP53, VHL
42002
CentoBreast panel
BRCA1, BRCA2, TP53, PTEN, STK11, CDH1,
PALB2, CHEK2, ATM, NBN, BARD1, BRIP1,
RAD51C
5264
S
P*
CentoCancer panel
APC, ATM, BARD1, BLM, BMPR1A, BRCA1,
BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2,
EPCAM, FH, FLCN, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE,
PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
5296
S
P*
CentoColon extended panel
APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1,
MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1,
POLE, PTEN, SMAD4, STK11, TP53
5297
Colon cancer non-polyposis panel
MSH2, MLH1, MSH6, PMS2, EPCAM
MSH2, EPCAM, MSH6, MLH1, PMS2
5230
Colon cancer with polyps panel
APC, BMPR1A, MUTYH, PTEN, SMAD4, STK11
STK11, APC, PTEN, SMAD4, MUTYH,
BMPR1A
5231
S
SD
SD
P*
P*
P*
Comprehensive hereditary cancer panel
ALK, APC, ATM, BAP1, BLM, BMPR1A, BRIP1,
CDC73, CDH1, CDK4, CDKN2A, CEBPA, CHEK2,
CYLD, DDB2, DICER1, ERCC1, ERCC2, ERCC3,
ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA,
FANCC, FANCD2, FANCF, FANCG, FH, FLCN,
GATA2, GDNF, HNF1A, HRAS, KIT, MEN1, MET,
MITF, MLH1, MSH2, MSH6, MUTYH, NBN, NF1,
NF2, NSD1, PALB2, PAX5, PDGFRA, PHOX2B,
PMS1, PMS2, POT1, PRKAR1A, PTCH1, PTEN,
RB1, RECQL4, RET, RUNX1, SBDS, SDHA, SDHB,
SDHC, SDHD, SMAD4, SMARCB1, STK11,
SUFU, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA,
XPC
42001
S
P*
Gastric cancer panel, targeted
BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6,
PMS1, PMS2, SMAD4
MSH2, EPCAM, MSH6, MLH1,
SMAD4, CDH1, BMPR1A, PMS2
5233
Multiple endocrine neoplasias /paraganglioma/
pheochromocytoma panel
CDKN1B, MAX, MEN1, RET, SDHA, SDHAF2,
SDHB, SDHC, SDHD, TMEM127, VHL
SDHA, VHL, SDHD, SDHAF2, MAX,
CDKN1B, MEN1, SDHB, SDHC, RET
5276
SD
SD
P*
P*
Myeloid Tumor Panel
ABL1 (Ex4-Ex6), ASXL1 (Ex12), ATRX (Ex08-10,
Ex17-31), BCOR (full gene), BCORL1 (full
gene), BRAF (Ex15), CALR (Ex09), CBL (Ex08E09), CBLB (Ex09, Ex10), CBLC (Ex09, Ex10),
CDKN2A (full gene), CEBPA (full gene), CSF3R
(Ex14-Ex17), CUX1 (full gene), DNMT3A
(full gene), ETV6/TEL (full gene), EZH2 (full
gene), FBXW7 (Ex09-Ex11), GATA1 (Ex02),
GATA2 (Ex02-Ex06), GNAS (Ex08-Ex09), HRAS
(Ex02-Ex03), IDH1 (Ex04), IDH2 (Ex04), IKZF1
(full gene), JAK2 (Ex12, Ex14), JAK3 (Ex13),
KDM6A (full gene), KIT (Ex2, Ex08-Ex11, Ex13,
Ex17), KRAS (E02-E03), MLL (Ex05-Ex08), MPL
(Ex10), MYD88 (Ex03, Ex04, Ex05), NOTCH1
(Ex26-Ex27, Ex34), NPM1 (Ex12), NRAS (Ex02Ex03), PDGFRA (Ex12, Ex14, Ex18), PHF6 (full
gene), PTEN (Ex05, Ex07), PTPN11 (Ex3, Ex13),
RAD21 (full gene), RUNX1 (full gene), SETBP1
(Ex04 (partial)), SF3B1 (Ex13-Ex16), SMC1A
(Ex2, Ex11, Ex16, Ex17), SMC3 (Ex10, Ex13,
Ex19, Ex23, Ex25, Ex28), SRSF2 (Ex01), STAG2
(full gene), TET2 (Ex3-Ex11), TP53 (Ex2-Ex11),
U2AF1 (Ex02, Ex06), WT1 (Ex07, Ex09), ZRSR2
(full gene)
Ovarian cancer panel, targeted
BARD1, BRCA1, BRCA2, BRIP1, EPCAM, MLH1,
MRE11A, MSH2, MSH6, NBN, PMS1, PMS2,
RAD50, RAD51C, RAD51D, STK11, TP53
MSH2, BRIP1, RAD51D, RAD50,
RAD51C, PMS2, BRCA2, STK11,
EPCAM, TP53, MSH6, MLH1, BRCA1
5232
SD
P*
Pancreatic cancer panel, targeted
APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1,
MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1,
SMAD4, STK11
CDKN2A, MSH2, BMPR1A, PMS2,
STK11, PALB2, EPCAM, APC, PRSS1,
MSH6, SMAD4, MLH1, ATM
5234
SD
P*
PGL / PCC / GIST panel, targeted
GDNF, KIF1B, MAX, MEN1, NF1, RET, SDHA,
SDHAF2, SDHB, SDHC, SDHD, TMEM127,
TP53, VHL
GDNF, MAX, MEN1, NF1, RET,
SDHA, SDHAF2, SDHB, SDHC,
SDHD, TP53, VHL
5239
SD
P*
42005
SD
C P*
42003
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
P*
C P*
V66.1_April2016
83
Panel name
Prostate cancer panel
Genes
Deletion / duplication testing
(genes analyzed)
Test
code
SDRHC P
SD
P*
BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, CHEK2, MSH2, BRCA2, TP53, PTEN,
MSH6, NBN, PTEN, TP53
MSH6, MLH1, BRCA1
5281
5235
SD
P*
5236
SD
P*
Renal cancer panel, targeted
EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF,
MLH1, MSH2, MSH6, PMS1, PMS2, PTEN,
SDHB, SDHD, TSC1, TSC2, VHL, WT1
MSH2, TSC1, TSC2, WT1, MITF,
PMS2, FH, SDHD, VHL, FLCN, EPCAM, HNF1A, PTEN, HNF1B, MSH6,
MLH1, MET, SDHB
Skin cancer panel, targeted
CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2,
MSH6, PMS1, PMS2, POT1, PTCH1, XRCC3
MSH2, CDKN2A, EPCAM, PTCH1,
MSH6, MLH1, MITF, PMS2
Solid Tumor Panel
ABL1, AKT1, ALK, APC, AR, ARID1A, ASXL1,
ATM, AXL, BRAF, CDH1, CDK4, CDKN2A,
CTNNB1, DDR2, EGFR, ERBB2, FGFR1, FGFR2,
FGFR3, FGFR4, GNA11, GNAQ, GNAS, HRAS,
IDH1, IDH2, JAK2, JAK3, KDM6A, KDR, KIT,
KRAS, MAP2K1, MET, MLH1, MLL, MLL2, MLL3,
MTOR, NF1, NOTCH1, NRAS, NTRK3, PDGFRA,
PDGFRB, PIK3CA, PIK3R1, PTCH1, PTEN,
PTPN11, RB1, RET, ROS1, SMAD4, SMARCA4,
SMARCB1, SMO, STK11, TP53, TSC1, TSHR, VHL
Thyroid cancer panel, targeted
APC, PTEN, RET
APC, PTEN, RET
5237
Uterine cancer panel, targeted
EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2,
PTEN
MSH2, EPCAM, PTEN, MSH6, MLH1,
PMS2
5238
42004
C P*
SD
SD
P*
P*
› Oncogenetics
Gene
Test
code
OMIM Gene
DNMT3A
30014
602769
Adenocarcinoma of lung, somatic
BRAF
30007
164757
Adenocarcinoma of lung, somatic
ERBB2
30017
164870
Adenoma, periampullary, somatic
APC
30001
611731
Adrenal adenoma, somatic
MEN1
30036
613733
Angiofibroma, somatic
MEN1
30036
613733
Basal cell carcinoma type 7, susceptibility to, somatic
TP53
30057
191170
Basal cell nevus syndrome
PTCH1
1216
601309
Basal cell nevus syndrome
SUFU
2360
607035
Basal cell nevus syndrome due to germline PTCH2 mutation
PTCH2
2687
603673
Beckwith-Wiedemann syndrome
CDKN1C
1164
600856
Beckwith-Wiedemann syndrome
chr. 11p15
92
Beckwith-Wiedemann syndrome
H19
1750
103280
Beckwith-Wiedemann syndrome
KCNQ1OT1
1749
604115
Beckwith-Wiedemann syndrome
NSD1
201
606681
Bladder cancer, HRAS related, somatic
HRAS
30026
190020
Bladder cancer, somatic
FGFR3
30021
134934
Bladder cancer, somatic
KRAS
30035
190070
Bladder cancer, TSC1-related, somatic
TSC1
30058
605284
BRAF somatic Hotspot: c.1799T>A p.V600E
BRAF
45001
164757
BRAF, selective sequencing of exon 15
BRAF
45013
164757
Breast cancer, RINT1 related
RINT1
2626
610089
Breast cancer, somatic
KRAS
30035
190070
Breast cancer, susceptibility to
BARD1
986
601593
Breast cancer, susceptibility to
PALB2
388
610355
Breast cancer, susceptibility to
XRCC3
2332
600675
Breast-ovarian cancer
BRCA1
1165
113705
Breast-ovarian cancer
BRCA2
379
600185
Breast-ovarian cancer
RAD51C
1167
602774
Breast-ovarian cancer, familial, susceptibility to, type 4
RAD51D
1168
602954
CALR, selective sequencing of exon 9
CALR
45019
109091
Carcinoid tumor of lung, somatic
MEN1
30036
613733
PRKAR1A
1192
188830
Cell cycle disorder, CDC20 related
CDC20
2478
603618
Cervical cancer, somatic
FGFR3
30021
134934
Colon cancer, PPARG related, somatic
PPARG
30046
601487
Colorectal cancer, hereditary
NRAS
1248
164790
Colorectal cancer, hereditary nonpolyposis type 1
MSH2
1170
609309
Colorectal cancer, hereditary nonpolyposis type 2
MLH1
1171
120436
Colorectal cancer, hereditary nonpolyposis type 4
PMS2
1172
600259
Colorectal cancer, hereditary nonpolyposis type 5
MSH6
1173
600678
Colorectal cancer, hereditary nonpolyposis type 6
TGFBR2
295
190182
Colorectal cancer, hereditary nonpolyposis type 7
MLH3
1174
604395
Disease
Acute myeloid leukemia, somatic, DNMT3A related
Carney complex type 1
84
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
C P*
C P*
C P*
C P*
C P*
C P*
C P*
SD
P*
SD
P*
SD
P*
SD
P*
D
P*
SD
P*
D
P*
SD
P*
C P*
C P*
C P*
C P*
H P*
H P*
SD
P*
C P*
SD
P*
S D H P*
SD
P*
S D H P*
S D H P*
SD
P*
SD
P*
H P*
C P*
SD
P*
SD
P*
C P*
C P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
V66.1_April2016
Gene
Test
code
OMIM Gene
Colorectal cancer, hereditary nonpolyposis type 8
EPCAM
1175
185535
Colorectal cancer, hereditary, susceptibility to
CCND1
2134
168461
Colorectal Cancer, resistance to cetuximab, EGFR related, somatic
EGFR
30015
131550
Colorectal cancer, somatic
APC
30001
611731
Colorectal cancer, somatic
BRAF
30007
164757
Colorectal cancer, somatic
CTNNB1
30011
116806
Colorectal cancer, somatic
DCC
30012
120470
Colorectal cancer, somatic
EP300
30016
602700
Colorectal cancer, somatic
FGFR3
30021
134934
Colorectal cancer, somatic
FLCN
30022
607273
Colorectal cancer, somatic
NRAS
30043
164790
Cowden syndrome type 1
PTEN
1176
601728
Cowden syndrome type 5
PIK3CA
917
171834
Cowden syndrome type 6
AKT1
1832
164730
Cylindromatosis, familial
CYLD
2541
605018
EGFR somatic Hotspot: c.2573T>G, p.L858R
EGFR
45012
131550
EGFR, selective sequencing of exons 18-21
EGFR
45017
131550
Endometrial carcinoma, somatic
CDH1
30008
192090
ARID1A
30003
603024
NRAS
30043
164790
TGFBR2
30056
190182
Esophageal carcinoma, somatic
DCC
30012
120470
Familial adenomatous polyposis coli
APC
1163
611731
Familial adenomatous polyposis coli
MUTYH
1169
604933
Familial adenomatous polyposis type 3
NTHL1
2874
602656
Gastric cancer, BLM related, somatic
BLM
30006
604610
Gastric cancer, hereditary diffuse
CDH1
1177
192090
Gastric cancer, somatic
APC
30001
611731
Gastric cancer, somatic
ERBB2
30017
164870
Gastric cancer, somatic
FGFR2
30020
176943
Gastric cancer, somatic
KLF6
30034
602053
Gastric cancer, somatic
KRAS
30035
190070
Gastric cancer, somatic
MUTYH
30040
604933
Gastrointestinal stromal tumor, familial
KIT
1178
164920
Gastrointestinal stromal tumor, somatic
PDGFRA
30045
173490
KIT
30033
164920
Glioblastoma, somatic
ERBB2
30017
164870
Glioma susceptibility 1, susceptibility to, somatic
TP53
30057
191170
Glioma, susceptibility to, somatic
IDH1
30027
147700
Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1
NCF1
1968
608512
Hemangioblastoma, cerebellar, somatic
VHL
30061
608537
ANTXR1
1707
606410
Hemangioma, capillary infantile, familial, susceptibility to
KDR
2141
191306
Hepatoblastoma, somatic
APC
30001
611731
Hepatocellular carcinoma, somatic
CTNNB1
30011
116806
Hepatocellular carcinoma, somatic
IGF2R
30029
147280
Hepatocellular carcinoma, somatic
TP53
30057
191170
RAD50
2321
604040
PDGFRA
30045
173490
IDH1, selective sequencing of exon 4
IDH1
45015
147700
IDH2, selective sequencing of exon 4
IDH2
45016
147650
JAK2, selective sequencing of exons 12, 14 and 16
JAK2
45014
147796
Juvenile polyposis syndrome
BMPR1A
1179
601299
Juvenile polyposis syndrome
SMAD4
277
600993
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
SMAD4
277
600993
KIT
45018
164920
KRAS somatic Hotspot: c.35G>A, p.G12D
KRAS
45010
190070
KRAS somatic Hotspot: c.35G>T p.G12V
KRAS
45002
190070
KRAS somatic Hotspot: c.38G>A, p.G13D
KRAS
45011
190070
Leukemia, acute lymphoblastic
IKZF1
30030
603023
Leukemia, acute lymphoblastic, susceptibility to
PAX5
30044
167414
Leukemia, acute lymphoblastic, susceptibility to, due to PAX5 germline mutation
PAX5
2377
167414
Leukemia, acute myelogenous
JAK2
30031
147796
Leukemia, acute myelogenous
KRAS
30035
190070
Leukemia, acute myeloid
KIT
30033
164920
Leukemia, acute myeloid
RUNX1
30049
151385
Disease
Endometrioid carcinoma, ARID1A related, somatic
Epidermal nevus, somatic
Esophageal cancer, somatic
Germ cell tumors, somatic
Hemangioma capillary infantile
Hereditary breast and ovarian cancer syndrome, RAD50 related
Hypereosinophilic syndrome, idiopathic, resistant to imatinib
KIT, selective sequencing of exons 8, 9, 11, 13 and 17
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
SD
P*
SD
P*
C P*
C P*
C P*
C P*
C P*
C P*
C P*
C P*
C P*
SD
P*
SD
P*
SD
P*
SD
P*
H P*
H P*
C P*
C P*
C P*
C P*
C P*
SD
P*
SD
P*
SD
P*
C P*
SD
P*
C P*
C P*
C P*
C P*
C P*
C P*
SD
P*
C P*
C P*
C P*
C P*
C P*
SD
P*
C P*
SD
P*
SD
P*
C P*
C P*
C P*
C P*
SD
P*
C P*
H P*
H P*
H P*
SD
P*
SD
P*
SD
P*
H P*
H P*
H P*
H P*
C P*
C P*
SD
P*
C P*
C P*
C P*
C P*
V66.1_April2016
85
Gene
Test
code
OMIM Gene
Leukemia, acute myeloid, somatic
CEBPA
30010
116897
Leukemia, juvenile myelomonocytic
PTPN11
30047
176876
Leukemia, lymphoblastic and myeloid, EZH2 related
EZH2
30018
601573
Leukemia, megakaryoblastic, with or without Down syndrome, somatic
GATA1
30024
305371
Leukemia, myeloid acute form, due to CEBPA germline mutation
CEBPA
1934
116897
Li-Fraumeni syndrome type 1
TP53
1180
191170
Li-Fraumeni syndrome type 2
CHEK2
1181
604373
Lipoma, somatic
MEN1
30036
613733
Lung cancer, somatic
KRAS
30035
190070
Lung cancer, SOX2 related, somatic
SOX2
30053
184429
Lymphangioleiomyomatosis, somatic
TSC2
30059
191092
Lymphoma, B-cell type
BCL6
30005
109565
Lymphoma, follicular, somatic
BCL10
30004
603517
Lymphoma, MALT, somatic
BCL10
30004
603517
Lynch syndrome-like tumors, MLH1 related, somatic
MLH1
30038
120436
Macroglobulinemia, Waldenstrom, somatic
MYD88
30041
602170
Male germ cell tumor, somatic
BCL10
30004
603517
RET
30048
164761
Medulloblastoma, desmoplastic, familial
SUFU
2360
607035
Melanocytic nevus syndrome, congenital, somatic
NRAS
30043
164790
Melanoma, cutaneous malignant
MC1R
1274
155555
Melanoma, cutaneous malignant
MITF
777
156845
CDKN2A
1186
600160
Melanoma, cutaneous malignant, familial type 6, susceptibility to
XRCC3
2332
600675
Melanoma, cutaneous malignant, familial type 10, susceptibility to
POT1
2331
606478
Melanoma, cutaneous malignant, familial, CDK4 related
CDK4
1187
123829
Melanoma, malignant, somatic
BRAF
30007
164757
Melanoma, malignant, somatic
STK11
30054
602216
Meningioma, familial, PDGFB related
PDGFB
1801
190040
Meningioma, familial, susceptibility to
SMARCE1
1510
603111
Meningioma, familial, susceptibility to
SUFU
2360
607035
Meningioma, MN1 deficiency related
MN1
2359
156100
Meningioma, NF2-related, somatic
NF2
30042
607379
Mesothelioma, somatic
BCL10
30004
603517
Mesothelioma, somatic
WT1
30062
607102
CDKN2B
1474
600431
Multiple endocrine neoplasia type 2A
RET
240
164761
Multiple endocrine neoplasia type 2B
RET
240
164761
Multiple endocrine neoplasia type 4
CDKN1B
2608
600778
Myelodysplastic syndrome, somatic
TET2
30055
612839
Myelofibrosis with myeloid metaplasia, somatic
MPL
30039
159530
Myelofibrosis, somatic
JAK2
30031
147796
Myxoma, intracardiac
PRKAR1A
1192
188830
Nasopharyngeal carcinoma, somatic
TP53
30057
191170
Neurocutaneous melanosis, somatic
NRAS
30043
164790
SPRED1
281
609291
Neurofibromatosis type 1
NF1
182
613113
Neurofibromatosis type 2
NF2
183
607379
Nevus sebaceous, HRAS related, somatic
HRAS
30026
190020
Nevus, epidermal, somatic
FGFR3
30021
134934
Nonpolyposis hereditary colon cancer
PMS1
57
600258
Nonsmall cell lung cancer, familial, susceptibility to
EGFR
1183
131550
Nonsmall cell lung cancer, responsive to tyrosin kinase inhibitor, somatic, EGFR related
EGFR
30015
131550
Nonsmall cell lung cancer, somatic
BRAF
30007
164757
NRAS somatic Hotspot: c.34G>T, p.G12C
NRAS
45008
164790
NRAS somatic Hotspot: c.35G>A, p.G12D
NRAS
45007
164790
NRAS somatic Hotspot: c.181C>A p.Q61K
NRAS
45005
164790
NRAS somatic Hotspot: c.182A>G, p.Q61R
NRAS
45009
164790
Orolaryngeal cancer, multiple, somatic
CDKN2A
30009
600160
Ovarian cancer, somatic
CTNNB1
30011
116806
Ovarian cancer, somatic
ERBB2
30017
164870
Ovarian carcinoma, somatic
CDH1
30008
192090
Ovarian clear-cell carcinoma, ARID1A related, somatic
ARID1A
30003
603024
Pancreatic cancer type 3, susceptibility to
PALB2
388
610355
Pancreatic cancer, somatic
SMAD4
30050
600993
Pancreatic cancer, somatic
STK11
30054
602216
Disease
Medullary thyroid carcinoma, somatic
Melanoma, cutaneous malignant, familial
Multiple endocrine neoplasia type 1, CDKN2B related
Neurofibromatosis type 1 -like syndrome
86
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
C P*
C P*
C P*
C P*
SD
P*
SD
P*
SD
P*
C P*
C P*
C P*
C P*
C P*
C P*
C P*
C P*
C P*
C P*
C P*
SD
P*
C P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
C P*
C P*
SD
P*
SD
P*
SD
P*
SD
P*
C P*
C P*
C P*
SD
P*
SD
P*
SD
P*
SD
P*
C P*
C P*
C P*
SD
P*
C P*
C P*
SD
P*
SD
P*
SD
P*
C P*
C P*
SD
P*
SD
P*
C P*
C P*
H P*
H P*
H P*
H P*
C P*
C P*
C P*
C P*
C P*
S D H P*
C P*
C P*
V66.1_April2016
Disease
Pancreatic cancer, somatic
Gene
Test
code
OMIM Gene
TP53
30057
191170
CDKN2A
30009
600160
Pancreatic carcinoma, somatic
KRAS
30035
190070
Paragangliomas type 4
SDHB
261
185470
Parathyroid adenoma, somatic
MEN1
30036
613733
Peutz-Jeghers syndrome
STK11
1195
602216
Peutz-Jeghers syndrome, somatic
STK11
30054
602216
Pheochromocytoma type 1
SDHA
1188
600857
Pheochromocytoma type 2
SDHB
261
185470
Pheochromocytoma type 3
SDHC
1189
602413
Pheochromocytoma type 4
SDHD
1190
602690
Pheochromocytoma type 5
SDHAF2
1191
613019
Pheochromocytoma type 8
TMEM127
1193
613403
Pheochromocytoma type 9
MAX
1194
154950
PIK3CA related overgrowth spectrum, somatic
PIK3CA
30067
171834
Pleuropulmonary blastoma
DICER1
99
606241
Polycythemia vera, somatic
JAK2
30031
147796
Polyposis syndrome, hereditary mixed
GREM1
727
603054
Polyposis syndrome, hereditary mixed type 2
BMPR1A
1179
601299
Prostate cancer
BRCA2
379
600185
Prostate cancer
SRD5A2
1200
607306
Prostate cancer
STAG1
1910
604358
Prostate cancer
ZNF783
2030
Prostate cancer, familial, association with
HOXB13
2736
604607
Prostate cancer, hereditary type 1
RNASEL
1198
180435
ELAC2
1197
605367
KLF6
30034
602053
AR
30002
313700
KDM6A
30032
300128
Renal carcinoma, chromophobe, somatic
FLCN
30022
607273
Renal carcinoma, Tuberous sclerosis-associated, somatic
TSC1
30058
605284
Renal cell carcinoma, papillary type 1, familial
MET
1201
164860
Renal cell carcinoma, papillary type 1, somatic
MET
30037
164860
Renal cell carcinoma, somatic
VHL
30061
608537
RET, selective sequencing of exons 5, 8, 10, 11 and 13-16
RET
2773
164761
Rhabdoid tumors, somatic
SMARCB1
30052
601607
Small cell ovarian carcinoma, hypercalcemic type, SMARCA4 related, somatic
SMARCA4
30051
603254
Spermatocytic seminoma, somatic
FGFR3
30021
134934
Spiegler-Brooke syndrome
CYLD
2541
605018
FAS
30019
134637
Testicular tumor, somatic
STK11
30054
602216
Thrombocythemia type 3, somatic
JAK2
30031
147796
Thyroid adenoma, hyperfunctioning, somatic
TSHR
30060
603372
Thyroid carcinoma with thyrotoxicosis
TSHR
30060
603372
Thyroid carcinoma, follicular, HRAS related, somatic
HRAS
30026
190020
Thyroid carcinoma, follicular, somatic
NRAS
30043
164790
Trichoepithelioma, multiple familial, type 1
CYLD
2541
605018
Tumor predisposition syndrome
BAP1
2540
603089
Tumor predisposition syndrome, ARL11 related
ARL11
2732
609351
RHBDF2
1049
614404
Uveal melanoma, GNAQ related, somatic
GNAQ
30025
600998
Various cancers, DICER1 related, somatic
DICER1
30013
606241
von Hippel-Lindau syndrome
VHL
322
608537
Wilms tumor, IGF2 related, somatic
IGF2
30028
147470
Pancreatic cancer/melanoma syndrome, somatic
Prostate cancer, hereditary type 2, susceptibility to
Prostate cancer, somatic
Prostate tumor, AR related, somatic
Renal cancer, KDM6A related, somatic
Squamous cell carcinoma, burn scar-related, somatic
Tylosis with esophageal cancer
S フルジーンシークエンス D 欠失/重複解析 R リピート伸長解析 H ホットスポット解析 C 体細胞突然変異解析
L ラージエクステンドスクリーニング P 出生前検査 P* 出生前検査(ご要望に応じて) (P or P*はS, D, R, H or Lとの組み合わせで有効です)
SDRHC P
C P*
C P*
C P*
SD
P*
C P*
SD
P*
C P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
C P*
SD
P*
C P*
SD
P*
SD
P*
S D H P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
SD
P*
C P*
C P*
C P*
C P*
C P*
SD
P*
C P*
C P*
H P*
C P*
C P*
C P*
SD
P*
C P*
C P*
C P*
C P*
C P*
C P*
C P*
SD
P*
SD
P*
SD
P*
SD
P*
C P*
C P*
SD
P*
C P*
V66.1_April2016
87
88
サンプルの準備方法
› サンプルサイズ: 3-5mL
› 新生児および小児の場合は2mL
› ご注意：1パネル以上を依頼され
る場合、必要な血液量を代理店ま
でご確認ください。
EDTAチューブ
› サンプルサイズ：1サークル当たり、50μl
のEDTA血(サークルは、十分に飽和させ
てください)
› 10-20サークルを満たします(サークル数
は、依頼した解析の種類に依存します)
› ご注意：1パネル以上またはラージエク
ステンドパネルを依頼される場合、
必要
なフィルターカード数を代理店までご確
認ください。
フィルターカード
› サンプルサイズ：20mg
› Fetal Calf Serum (FCS)添加済RPMI培地で
洗浄したもの
› パラフィン包埋組織
– 滅菌チューブに入れた25-50mgの
組織または厚さ5-10μmの組織
Somatic Genomics
› 25-50mgの腫瘍パラフィンブロック
› 病理報告書
› 受け入れ可能な固定法:
10%ホルマリンまたは4%パラホルムア
ルデヒド、あるいはOCT-Cell blocks-Fresh
Frozenの凍結組織
› RPMI培地中の細胞またはセルブロック
› サンプルサイズ：10mL
› サンプルサイズ：10 villi
› クリアなもの(血液のコンタミ
ネーションのないもの)
› Fetal Calf Serum (FCS)添加済RPMI
培地で洗浄したもの
羊水
ブアンまたはグルタールアルデヒドで固定した組
織は送らないでください。滅菌チューブで、室温に
て、お送りください(保冷材は不要です)。
組織サンプル
絨毛膜絨毛
› サンプルサイズ：3-5mL
› サンプルサイズ: 5µg
(NGSパネルの場合、20μg)
› 私達は、260nmと280nmの吸光度
比(A260/280)が1.6-2.1の精製DNAを
受け入れています。
› サンプルサイズ：cell-free DNA BCT
STRECKチューブの血液5-10mL。
凝血を引き起こす恐れがあるた
め、血液には、他の抗凝血剤または
防腐剤を添加しないでください。
精製DNA
ctDNA
› ご注意：1パネル以上をご依頼され
る場合、必要な血液量を代理店ま
でご確認ください。
臍帯血
サンプルの輸送
フィルターカード、EDTA血、臍帯血 & 唾液:
サンプルは、室温にて、通常の郵便で送付できます。血液(液体状)は、輸送中最大４日間まで、安定です。
羊水：
サンプル(最低10mL)は、滅菌コニカルチューブに入れることが可能です。
これらは、室温にて、オーバーナイトで輸送する必要
があります。サンプルが凍結しないよう、
ご注意ください。
絨毛膜絨毛、およびその他組織サンプル：
これらのサンプルは、最低35mLのFetal Calf Serum添加済RPMI培地で、室温にて輸送する必要があります。サンプルは、凍結しな
い状態を確保して輸送する必要があります(特に冬季)。
ctDNA解析用血液：
血液サンプルは、ガラス製のSTRECKチューブで、生産元の推奨に従って、送付します。サンプル採取後は、凍結させることなく、直
ちに送付する必要があります。STRECKチューブに回収された血液サンプルは、14日間安定なため、室温で輸送可能です。ガラス
製のSTRECKチューブ中のサンプルは、輸送中のガラスチューブのあらゆる損傷から保護するため、注意深く取り扱われかつ輸
送される必要があります。
サンプルの拒否
適切な識別が無く、またサンプルを正確かつ明確に特定できる可能性が無いようなサンプルは全て、拒否されます。当該医師
は通知され、新しいサンプルを採取する必要があります。検査が依頼されていないか、依頼が不明瞭な場合、私達は当該医師
から署名済み依頼書を申し受けます。
> サンプルの種類によっては、日本代理店で対応できない場合がありますので、事前にご確認ください。
V66.1_April2016
89
体細胞性および遺伝性の腫瘍遺伝学的解析に
必要な試料
Comprehensive Hereditary Cancer Panel
› EDTA血：1 ml
› フィルターカード：1 枚
› DNA：2μg
› FFPE切片(厚さ5-10µm)：10 枚
› FFPE組織または新鮮凍結組織：25-50 mg
Hereditary Cancer Panels
› EDTA血：1 mL
› フィルターカード：2 枚
› DNA：10-20 µg (各パネルについては、代理店までお問い合わせください)
Somatic Myeloid Tumor Panel
› 骨髄サンプル：1-3 ml
› EDTA血：1 ml
› DNA(骨髄または血液から単離したもの)：1 μg
Somatic Solid Tumor Panels, Single Gene and Point Mutation Analysis
(必須なもの)
› FFPE切片(厚さ5-10µm)：10 枚 (腫瘍に富む領域をマーカーで明確に囲み、病理報告書も添えてください)
(新鮮凍結組織サンプルは受け入れていません)
› DNA(腫瘍に富む領域から抽出したもの)：1 μg
› EDTA血：1 ml　または　正常組織から抽出したDNA(Buccal swab等)：1 μg
(推奨されるコントロールとして)
› 組織固定年
› 腫瘍のグレード、
ステージ
› 組織固定のプロトコール(可能な場合)
› オンコロジーレポート(再発検査の場合)
› 原発組織
90
V66.1_April2016
CENTOGENEの遺伝学的検査の方法と手順*
診断法
ホットスポット解析
集団において頻度の高い変異を解析します。各罹患者の民族性/祖先
(医師より提供される)によって、ホットスポット変異は異なります。
フルジーンシークエンス
特定の疾患に関連する遺伝子を解析します。
次世代シークエンスパネル
特定の疾患や集団に関連する包括的遺伝子グループを解析します。
全エクソーム
シークエンシング
(CentoXome®)
全ゲノム
シークエンシング
(CentoGenome™)
ゲノム中でタンパク質をコードする、全エクソンを解析することによって、
罹患者における遺伝性疾患の分子基盤を明らかにします。
タンパク質コードおよび非コード領域を解析することで、個人の遺伝組成
に関する包括的な情報を明らかにします。
体細胞突然変異解析
生後に獲得される変異を解析します。
これらの変異は細胞のごく一部に
のみ存在し、(常にではありませんが)がんと高い頻度で関連しています。
欠失/重複解析
MLPAやqPCRを使用して、大規模な欠失や重複を同定します。
ライソゾーム病
エンザイムアッセイ
乾燥血液スポットから、液体クロマトグラフ-タンデム質量分析(LC-MS/MS)
または蛍光定量的/分光光度的検出法によって、
ライソゾーム病(例えば、
ファブリー病、ポンペ病、MPS1など)における酵素活性を測定します。
ライソゾーム病
バイオマーカー解析
乾燥血液スポットおよびEDTA血漿から、液体クロマトグラフ-タンデム
質量分析(LC-MS/MS)によって、
ファブリー病(lyso-Gb3)およびゴーシュ病
(lyso-Gb1)、ニーマンピック病(NPC-509マーカー)におけるバイオマーカー
濃度を測定します。
* 全ての検査において、全ての方法が利用できるわけではありません。詳細やご質問については、代理店までご連絡ください。
›ご
連絡先
V66.1_April2016
CENTOGENE日本総代理店
フィルジェン株式会社
バイオサイエンス部
Phone: 052-624-4388
Fax: 052-624-4389
[email protected]
www.filgen.jp
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