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Sistemas Genomicos 社の遺伝子解析サービス
2011/1/20 1/4 Sistemas Genomicos 社の遺伝子解析サービス 疾患名 1 2 3 4 5 6 （英文） Achondroplasia Adenomatous Polyposis, familial Alagille Syndrome Albinism, Oculocutaneous type 1 Albinism, Oculocutaneous type 2 Alpha-1-Antitrypsin Deficiency 7 Alport Syndrome 8 Alzheimer Disease 9 10 11 12 13 Amyloid Polyneuropathology Angelmann Syndrome Aniridia Antithrombin III Deficiency Apert Syndrome 14 Arritmogenic Right Ventricular Dysplasia 15 Ataxias, Spinocerebellar (SCA) 16 17 18 19 Bartter Syndrome Beckwith-Wiedemann Syndrome Beta Thalassaemia Brachydactyly, type B 20 Breast Cancer, familial 21 22 23 24-1 24-2 24-3 24-4 24-5 24-6 24-7 24-8 24-9 25 26 CADASIL Campomelic Dysplasia Celiac Disease type 1B type 2A type 2A2 type 2B1 type 4A type 4D type 1D&4E X-linked type 28 29 30 31 Cleidocranial Dysplasia Coffin-Lowry Syndrome Congenital Adrenal Heyperplasia duet 21-hydr Congenital Nystagmus X-linked Craniometaphyseal Dysplasia Craniosynostosis Crigler-Najjar-Syndrome 32 Cystic Fibrosis 27 * Charcot-Marie-Tooth Disease type 1A （和文） 軟骨無形成症 家族性大腸ﾎﾟﾘｰﾌﾟ症 ｱﾗｼﾞﾙ症候群 白皮症、白子症 白皮症、白子症 α １ｱﾝﾁﾄﾘﾌﾟｼﾝ欠損症 対象遺伝子 ＦＧＦＲ３ APC JAG1 TYR OCA2 SERPINA1 COL4A3 COL4A4 ｱﾙﾎﾟｰﾄ症候群 COL4A5 Apo E APP ｱﾙﾂﾊｲﾏｰ病 PSEN1 PSEN2 TTR ｱﾐﾛｲﾄﾞ多発性神経障害 UBE3A ｱﾝｼﾞｪﾙﾏﾝ症候群 PAX6 無虹彩症 SERPINC1 ｱﾝﾁﾄﾛﾝﾋﾞﾝIII 欠損症 FGFR2 ｱﾍﾟｰﾙ症候群 PKP2 不整脈惹起性右心室形成異 PYR2 常症 DSP DSG２ SCA1, 2, 3, 6, 脊髄小脳性運動失調 7, 8, 12 & 17 BSND ﾊﾞｰﾀｰ症候群 CDKN1C ﾍﾞｸｳｨｽﾞ・ｳﾞｨｰﾃﾞﾏﾝ症候群 HBB ﾍﾞｰﾀｻﾗｾﾐｱ ROR2 短指症 BRCA1&2 BRCA1 家族性乳がん BRCA2 BRCA1&2 NOTCH3 脳動脈症 SOx9 四肢湾曲骨異常形成症 DQ2 ｾﾘｱｯｸ病 PMP22 ｼｬﾙｺｰ・ﾏﾘｰ・ﾂｰｽ病 1A MPZ 1B MFN2 2A MTMR2 2A2 LMNA 2B1 GDAP1 4A NRDG1 4D 1D&4E EGR2 X-linked GJB1 RUNX2 鎖骨頭骸骨形成不全症 RSK2 ｺﾌｨﾝ・ﾛ-ﾘｰ症候群 分析 * ｼｽﾃﾑ ① ② ② ② ② ② ② ② ② genotyping ② ② ② ① ② ② ② ① ② ① ② ② Individual analysis ② ② ② ② ② ② ② ③ ① ② genotyping ② ② ② ② ② ② ② ② ② ② ② 先天性副腎過形成 CYP2IA2 ① 先天性眼振（ﾆｽﾀｸﾞﾑｽ） 頭骸骨幹端形成異常 頭蓋骨癒合症 ｸﾘｸﾞﾗｰ･ﾅｼﾞｬｰﾙ症候群 FRMD7 ANKH FGFR１ UGT1A1 嚢胞性線維症 CFTR ② ① ① ② ① ② 分析システム ①-Detection of point mutations(PCR+sequencing) ④-Methylation analysis ②-Complete sequencing(Sanger technology) ⑤-Southern Blot ③-Detection and duplication detection(MLPA) ⑥-CGH array 2011/1/20 2/4 33 Deafness, nonsyndromic sensorineural autoso 難聴、聴覚失調症 34 Dejerine-Sottas Syndrome ﾄﾞｼﾞｪﾘｰﾇ・ｿｯﾀ症候群 ① ② ② ③ ② ② ② ③ ② ① ② ① ② 41 Exostoses、hereditary multiple 遺伝性多発性外骨腫症 42 43 Factor V (Leiden) Deficiency Familial Hypokalaemic Periodic Paralysis 家族性低ｶﾘｳﾑ血性周期性麻痺 44 Familial Paraganglioma 傍神経節腫 45 Fragile X Chromosome Syndrome ぜい弱X症候群 PM22 MPZ DRPLA HNF4 GCK TCF１ MLPA DMD COL7A1 PLEC1 TP73L COL5A1 COL5A2 COL3A1 EXT1 EXT2 EXT1&2 F5 CACNA1S SDHB SDHD FMR1 46 Friedreich Ataxia ﾌﾘｰﾄﾞﾗｲﾋ運動失調 FRDA Gastric Cancer Gilbert Syndrome Glutaric Aciduria, type Ⅰ Glycogen Strage Disease Glycogen Strage Disease 胃がん ｼﾞﾙﾍﾞｰﾙ症候群 ｸﾞﾙﾀｰﾙ酸尿症 Ⅰ型 糖原病 糖原病 CDH1 UGT1A1 GCDH G6PC PYGM 35 Dentatorubral Pallidoluysian Atrophy 36-1 Diabetes MODY type 1 36-2 MODY type 2 36-3 MODY type 3 歯状核赤核淡蒼球ﾙｲ体萎縮症 糖尿病 MODY１型 糖尿病 MODY２型 糖尿病 MODY３型 37 Duchenne-Becker Muscular Dystrophy ﾄﾞｩｼｪﾝﾇ・ﾍﾞｯｶｰ筋萎縮症 38 Dystrophic Epidermolysis Bullosa 栄養障害型表皮水胞症 39 Ectrodactyly, Ectdermal Dysplasia 欠損症・外胚葉形成異常 40-1 Ehlerｓ-Danlos Syndrome type I 40-2 type IV 47 48 49 50-1 50-2 * GJB2 type Ia type V ｴｰﾗｰｽ・ﾀﾞﾝﾛｽ症候群Ⅰ型 Ⅳ型 第V因子欠損症 51 Gonadal Dysgenesis （XY Female) 性器発育異常（XY女性） SRY 52 Gorlin Syndrome 基底細胞母斑症候群 PTCH 53 Hemochromatosis ﾍﾓｸﾛﾏﾄｰｼｽ（鉄代謝異常） HFE 54 55 Hemophilia A Hemophilia B 血友病A 血友病B 56 Hereditary Pancreatitis 遺伝性膵炎 57 58 Hidrotic Ectodermal Dysplasia Hypobetalipoproteinemia 発汗性外胚葉性形成異常 低ﾍﾞｰﾀﾘﾎﾟ蛋白血症 F8 F9 PRSS1 SPINK1 GJB6 APOB 59 Holt Oram Syndrome ﾎｰﾙﾄ･ｵｰﾗﾑ症候群 TBX5 60 Ｈｕｎｔｉｎｇｔｏｎ Ｄｉｓｅａｓ ﾊﾝﾁﾝｸﾞﾄﾝ舞踊病 61 Hypercholesterolemia, familal 家族性高ｺﾚｽﾃﾛｰﾙ症 62 63 64 65 66 67 68 69 70 71 Hyperprothronbinemia Hypochondroplasia Hypophosphatemic Rickets Hypoplastic Left Heart Syndrome Ichthyosis X linked Incontinentia Pigmenti Kostmann Syndrome Leber Hereditary Optic Neuropathy Leigh Mitochondrial Syndrome Leopard Syndrome 高ﾌﾟﾛﾄﾛﾝﾋﾞﾝ血症 低軟骨形成症 低ﾘﾝ血症性くる病 左心室発育不全症候群 X染色体性魚鱗癬 色素失調症 ｺｽﾄﾏﾝ症候群 ﾚｰﾊﾞｰ遺伝性視神経萎縮 ﾘｰ病 多発性黒子症候群 ＨＤ APOB APOB LDLR F2 FGFR FGF23 GJA１ TGM1 IKBKG ELA2 MTND1,4,6 MTATP6 PTPN11 分析システム ①-Detection of point mutations(PCR+sequencing) ④-Methylation analysis ②-Complete sequencing(Sanger technology) ⑤-Southern Blot ③-Detection and duplication detection(MLPA) ⑥-CGH array ② ② ② ② ③ ① ① ② ② ③ ① ② ⑤ ② ① ② ① ① ① ② ② ① ② ② ② ① ① ② ② ① ② ③ ① ② ② ① ② ② ② ② ③ ② ① ① ① 2011/1/20 3/4 72 Li Fraumeni Syndrome ﾘｰ・ﾌﾗｳﾒﾆ癌症候群 73 Liddle Syndrome ﾘﾄﾞﾙ症候群 p53 SCNN1B&1G SCNN1B SCNN1G ② ① ② ② ① 74 Long QT Syndrome QT延長症候群 KCNQ1,KCNH2, KCNE1&2, KCNJ2 75 Lowe Syndrome ﾛｳ症候群 SCN5A OCRL1 76-1 Marfan Syndrome type Ⅰ ﾏﾙﾌｧﾝ症候群 Ⅰ型 FBN1 76-2 Marfan Syndrome type Ⅱ ﾏﾙﾌｧﾝ症候群 Ⅱ型 TGFBR2 77 Mediterranean Fever, familial 家族性地中海熱 MEFV 78 Medullary Cystic Kidney Disease 2 腎髄質嚢胞病 UMOD 79 Melanoma, familial 家族性黒色腫 CDKN2A(p16) MTTL1 80 MELAS Syndrome MELAS症候群 81 82 MERRF Syndrome Monilethrix ﾐｵｸﾛｰﾇｽてんかん 連珠毛 83 Morbiｄ Obesity 病的肥満 84 MTHFR Deficiency 85 MTHFR酵素欠損症 Multiple Cavernomatosis 86-1 Multiple Endocrine Neoplasia type Ⅰ 86-2 Multiple Endocrine Neoplasia type Ⅱ 87 Multiple Epiphyseal Dysplasia MTND5 MTTK KRTHB1&6 LEP MC4R MTHFR 家族性複数脳・肝臓・網膜血管海 KRIT1 綿腫 MEN1 多発性内分泌腫瘍 Ⅰ型 RET 多発性内分泌腫瘍 Ⅱ型 多発性骨端形成異常 COMP COL9A1,2,3 88 Myoclonus Dystonia ﾐｵｸﾛｰﾇｽ障害、筋間代失調症 SGCE 89 90 Myotonia Congenita Nail Patella Sybdorone 先天性筋緊張症 爪・膝骸骨症候群 CLCN1 LMX1B 91 Neuroferritinopathy ニューロフェリチノパシー FTL 92-1 Neurofibromatois type Ⅰ 神経線維腫症 Ⅰ型 NF1 92-2 Neurofibromatois type Ⅱ 神経線維腫症 Ⅱ型 NF2 93 Non-Polyposic Hereditary Colorectal Cancer 非遺伝性ﾎﾟﾘﾎﾟｰｼｽ大腸直腸 癌 94 Nonsyndromic Mitochondrial Hearing Loss 難聴、聴覚失調症 MLH1 MLH1&MSH2 MSH2 MSH6 PMS2 MTRNR1 PTPN11 95 Noonan Syndrome ﾇｰﾅﾝ症候群 RAF1 SOS1 96 97 98 99 100 * Norrie Disease Ocular Albinism type Ⅰ Ocular Pharyngeal Muscular Dystrophy Opitz G/BBB Syndrome X Linked Osteogenesis Imperfecta ﾉﾘｴ病 眼白子症 Ⅰ型 眼咽頭筋ｼﾞｽﾄﾛﾌｨｰ 両眼隔離症 骨形成不全症 分析システム ①-Detection of point mutations(PCR+sequencing) ④-Methylation analysis ②-Complete sequencing(Sanger technology) ⑤-Southern Blot ③-Detection and duplication detection(MLPA) ⑥-CGH array NDP GPR143 PABPN1 MID1 COL1A1& A2 ② ② ① ② ② ① ② ① ② ② ① ① ② ① ② ② ② ① ① ② ② ② ① ② ① ① ② ② ① ① ② ③ ⑥ ② ③ ② ③ ② ② ③ ① ② ① ① ② ① ② ② ② ① ① ② 2011/1/20 4/4 101 102 Osteopetrosis, Autosomal Dominant 2 Otopalatodigital Syndrome 大理石骨病 耳口蓋指趾症候群 103 Parkinson 振せん麻痺 104 105 106 107 108 109 110 111 Peuts-Jeghers Syndrome Phenylketonuria Plasminogen Activator Inhibitor １ Polycystic Kidney Disease Polycythemia Vera Porphyria Variegata Porphyria, Acute Intermittent Prader-Willi Syndrome ﾎﾟｲﾂ・ｼﾞｪｶﾞｰｽﾞ症候群 ﾌｪﾆﾙｹﾄﾝ尿症 112 多発性嚢胞腎 真性赤血球増加症 異型ﾎﾟﾙﾌｨﾘﾝ症 急性間欠性 ﾌﾟﾗｰﾀﾞｰ・ｳｨﾘ症候群 CLCN7 FLNA LRRK2 PINK1 PARK2 DJ1 STK11 PAH PLG PKHD1 JAK2 PPOX HMBS PWS/AS Primary Microcephaly, autosamal recessive 原発性小頭症 MCPH1 113 Profound Bilateral Hypoacusia 両耳難聴症 OTOF 114 Pseudoxanthoma Elasticum 弾性線維仮性黄色腫 ABCC6 115 116 117 Pulmonary Hypertension, primary Recesive Multiple Epiphyseal Dysplasia Rendu-Osler-Weber Syndrome 原発性肺高血圧症 劣性多発性骨端骨異型性 ﾗﾝﾃﾞｭ・ｵｽﾗｰ・ｳｪｰﾊﾞｰ症候群 BMPR2 SLC26A2 ACVRL1 118 Retinoblastoma 網膜芽腫 RB1 119 120 121 122 123 Rett Syndrome Russell-Silver Syndrome Saethre-Chotzen Syndrome Severe Myoclonic Epilepsy Shwachman-Diamond Syndrome ﾚｯﾄ症候群 ｼﾙﾊﾞｰ・ﾗｯｾﾙ症候群 ｼｰｻﾞｰ・ｼｮｯﾂｪﾝ症候群 重篤ﾐｵｸﾛｰﾇｽてんかん ｼｭﾊﾞｯﾊﾏﾝ症候群 124 Simple Epidermolysis Bullosa 単純型先天性水疱症 Simpson-Golabi-Behmel Syndrome Smith-Lemli-Opitz Syndrome ｼﾝﾌﾟｿﾝ・ｺﾞﾗﾋﾞ・ﾍﾞｰﾒﾙ症候群 Spastic Paraplegia 3A Spastic Paraplegia 4 Spinal and Bulbar Muscular Atrophy Spinal Muscular Atrophy (SMA) Steinert Myotonic Dystrophy Tay-Sachs Disease Torsion Dystonia ｽﾐｽ・ﾚﾑﾘ・ｵﾋﾟｯﾂ症候群 痙攣性運動失調 痙攣性対麻痺 痙攣性対麻痺 脊髄＆延髄筋萎縮症 脊髄性筋萎縮症 筋緊張性ｼﾞｽﾄﾛﾌｨｰ ﾃｲ・ｻｯｸｽ病 ねじれ失調症 133 Tuberous Sclerosis 結節硬化 134 Van der Woude Syndrome 遺伝性奇形症候群 MECP2 H19 TWIST SCN1A SBDS KRT5 KRT5&14 GPC3 DHCR7 SACS SPG3A SPG4 AR SMN1 DMPK TATC DYT1 TSC1 TSC2 IRF6 135 Von Hipel Lindau Syndrome ﾌｫﾝ･ﾋｯﾍﾟﾙ･ﾘﾝﾀﾞｳ症候群 VHL 136 137 138 Williams-Beuren Syndrome Wilson Disease X-Linked Hypophosphatemic ｳｨﾘｱﾑｽﾞ症候群 ｳｨﾙｿﾝ病 X連鎖性低ﾘﾝ血症性くる病 ７q11.2 ATP7B PHEX 139 X-Linked Periventricular Heterotopia X連鎖性脳室周囲結節性 異所性簸意灰白質 FLN1 ② 140 141 142 X-Linked Retinoschisis XX Male Syndrome Y Chromosome Microdeletions X連鎖性網膜分離症 ﾍﾟﾛｰ症候群 Y染色体微小決失 RS1 SRY AZFa,b,c ① ① ③ 125 126 127 128-1 128-2 129-1 129-2 130 131 132 * ﾌﾟﾗｽﾐﾉｰｹﾞﾝ活性化因子阻害 ② ① ① ① ② ② ② ② ② ② ① ② ② ④ ① ② ① ① ② ③ ② ③ ② ② ③ ② ④ ② ② ② ① ② ②③ ② ① ② ② ③ ① ① ① ① ② ② ② ② ③ ③ ② ② Spastic Ataxia Charlevoix-Saquenay type 分析システム ①-Detection of point mutations(PCR+sequencing) ④-Methylation analysis ②-Complete sequencing(Sanger technology) ⑤-Southern Blot ③-Detection and duplication detection(MLPA) ⑥-CGH array