基因診斷

名稱 英文名稱 縮寫
Aarskog-Scott氏症候群 Aarskog-Scott syndrome FGD1
軟骨發育不全症 Achondroplasia FGFR3
Actin-Nemalin myopathy ACTA1
Adenomatous polyposis Coli FAP-APC
腎上腺腦白質失養症 Adrenoleukodystrophy ABCD1
Agammaglobulinemia BTK
X-linked agammaglobulinemia (XLA) BTK
Bruton agammaglobulinemia BTK
Alagille syndrome JAG1
Aldolase A deficiency (ALDOA)
Alpha thalassemia HBA
Alpha thalassemia/Mental retard (ATRX)
α1-抗胰蛋白?缺乏症 α1- Antitrypsin deficiency AAT
α1-抗胰蛋白?缺乏症 Alpha-antitrypsin depficiency AAT
Alport syndrome COL4A5
Alzheimer disease PSEN1
Congenital amegakaryocytic thrombocytopenia (CAMT)
Amyloidosis TTR
肌萎縮性側索硬化症 Amyotrophic lateral sclerosis (ALS) SOD1
漸凍人 Amyotrophic lateral sclerosis (ALS) SOD1
Hereditary Angioedema C1NH
Aniridia PAX6
Antithrombin Deficiency SERPINC1
僵直性脊椎炎 Ankylosing spondylitis HLA-B27
鎖骨顱骨發育異常 Apert syndrome FGFR2
共濟失調微血管擴張症候群 Ataxia telangiectasia ATM
Bardet-Biedl症候群 Bardet-Biedl syndrome BBS1, BBS10
Barth Dilated Cardiomyopathy TAZ
Basal Cell Nevus Syndrome aka gorlin PTCH
Beta Thalassemia HBB
Bloom Syndrome
Birt-Hogge-Dube FLCN
Brachydactyly GDF5
Brachydactyly - Hypertension Syndrome HTNB
Hereditary Breast and Ovarian Cancer BRCA1, BRCA2
CADASIL - cerebral arteriopathy, AD, with subcortical infarcts & leukoencephalopathy Notch3
Canavan Disease ASPA
Carnitine - AcylCarn Translocase SLC25A20
CACH-Ataxia EIF2B4
Cardiomyopathy, Barth Type Dilated TZA
Cardiomyopathy, Dilated Hypertrophic MYH7
Ceroid-lipofuscinoses-Batton PPT1
Ceroid-Lipofuscinoses-Finish Type CLN5
Ceroid-Lipofuscinoses-Juvenile Type CLN3
進行性神經性腓骨萎縮症 Charcot Marie Tooth Disease PMP22, NEFL, GJB1 and MPZ
Cherubism SH3BP2
Choroideremia CHM
原發性慢性肉芽腫病 Chronic primary granulomatous disease CYBB
Ciliary Dyskinesia DNAH5
瓜胺酸血症 Citrullinemia ASS
DiGeorge’s症候群 Cleidocranial dysplasia RUNX2
Cockayne氏症候群 Cockayne syndrome ERCC6
大腸癌 Colon Cancer HNPCC, MSH2
Congenital Adrenal Hyperplasia CYP21A2
Congenital Disorder of Glycosylation CGD1
Congenital Icthyosis (Harlequin) ABCA12
Cornelia de Lange Syndrome NIPBL
Cosman-Cyclic Neutropenia ELA2
Crigler Najjar UGT1A1
Crouzon氏症候群 Crouzon syndrome FGFR2
囊狀纖維化症 Cystic fibrosis CFTR
Cysteinyl Leukotriene Receptor 1 Deficiency CYSLTR1
胱胺酸症 Cystinosis CTNS
Darier氏症（毛囊角化病） Darier’s disease ATP2A2
Deafness, Autosomal Recessive GJB2 ,GJB6, DFBN1
Denys-Drash Syndrome WT1
Desmin Storage Myopathy DES
Diamond Blackfan (DBA-RPS19) DBA-RPS19
Diamond Blackfan (DBA2) Not RPS19 DBA2
裘馨氏肌肉失養症 Duchenne muscular dystrophy DMD
先天性角化不全症 Dyskeratosis Congenita DKC1
Dystonia TOR1A
Dystrophia Myotonica DMPK, DM2, PROMN
外胚層增生不良症 Ectodermal Dysplasias EDA1, GJB6
Ectrodactyly- Clefting Syndrome TP63
先天結締組織異常 Ehlers Danlos syndrome COL3A1
Emery-Dreifuss Muscular Dystrophy EMD, LMNA
Epidermolysis Bullosa KRT5, KRT14, LAMB3, ITGB4, COL7A1
表皮鬆解角化過度症 epidermolytic hyperkeratosis KRT10
水泡性魚鱗癬樣紅皮症 Bullous Congenital ichthyosiform erythoderma
Prader-Willi氏症候群 Fabry disease GLA
面肩胛肱肌失養症 Facioscapulohumeral muscular dystrophy FRG1
Facioscapulohumeral dystrophy FSHD
Factor 13 Deficiency F13A1
Factor V Leiden F5
Familial Adenomatous Polyposis APC
Familial Dysautonomia IKBKAP
Familial Exudative Vitreoretinopathy FZD4
Fanconi Anemia FANCA, FANCC, FANDC2, FANCF, FANCJ, FANCG
Finnish Nephrosis NPHS1
Fragile X FMR1
Friedreich Ataxia I FRDA
半乳糖血症 Galactosemia GALT
胃癌 Gastric Cancer, Cadherin-E-1 CDH1
高雪氏症 Gaucher's disease GBA
Gerstman-Straussler Disease PRNP
戊二酸血症，第一、二型 Glutaric aciduria type I,II ETFA and GCDH
肝醣儲積症 Glycogen storage disease G6PC, SLC37A4, GAA
GM1/GM2神經節甘脂儲積症 GM1/GM2 gangliosidosis GLB1
Greig Cephalopolysyndactyly GLI3
亨汀頓氏舞蹈症 Huntington disease(又稱Huntington's chorea) HD
Hemophagocytic Lymphohistiocytosis HPLH1 and PRF1
A型血友病 Hemophilia A F8
B型血友病 Hemophilia B F9
Hereditary Angioedema C1NH
遺傳性出血性血管擴張症 Hereditary Hemorrhagic Telangiectasia HHT1
Hereditary Leiomyomatosis FH
Hereditary Lymphedema FOXC2
Hereditary Pancreatitis PRSS1
Histiocytosis, Hemophagocytic Lympho- HLH, PRF1
HLA HLA-A
Holt-Oram氏症候群 Holt-Oram Syndrome TBX5
高胱胺酸尿症 Homocystinuria CBS
Hunter Syndrome IDS
Hurler Syndrome IDUA
Hydrocephalus, X-linked L1CAM
高免疫球蛋白M症候群 Hyper-IgM syndrome TNFSF5
Hypertrophic Cardiomyopathy LDB3, MYH7, TNNT2, MYBPC3
Hypokalemic periodic paralysis SCN4A
Hypophosphatasia ALPL
性連遺傳型低磷酸鹽佝僂症 X-linked hypophosphatemic rickets
Inclusion Body Myopathy with Early-Onset Paget Disease & Frontotemporal Dementia VCP
Incontinentia Pigmenti NEMO
IPEX 症候群 IPEX Syndrome FOXP3
Joubert氏症候群（家族性小腦蚓部發育不全） Joubert syndrome INPP5E
Kallmann氏症候群 Kallmann syndrome FGFR1
KELL Antigen KEL
甘迺迪氏症(脊髓延髓性肌肉萎縮症) Kennedy Disease SMAX1
Krabbe Disease GALC
Lesch-Nyhan氏症候群 Lesch-Nyhan syndrome HPRT1
Leber Retinal Congenital Amaurosis GUCY2D, CEP290
Leigh Syndrome LRPPRC
Leukocyte Adhesion Deficiency ITGB2
Li Fraumeni Syndrome p53
Limb Girdle MD POMT1, LMNA
Long-Chain-AcylCoA Dehydrogenase LCHAD, HADHA
Long QT Syndrome KCNQ1, SCN5A, KCNE2
Lymphedema-Hereditary FOXC2
Lymphoproliferative Disorder, X-linked SH2D1A
Macular Dystrophy VMD2
Machado-Joseph Spinocerebellar Ataxia-3 SCA3
楓糖尿症 Maple syrup urine disease BCKDHB
Marfan Syndrome FBN1
Meckel Gruber MKS1, MKS3
MCADD MCADH
Menkes氏症候群 Menkes syndrome ATP7A
Merosin-deficient congenital muscular dystrophy 1A MCD1A
MLD症候群 Metachromatic Leukodystrophy（MLD） ARSA
甲基丙二酸血症 Methylmalonic acidemia MUT, MMACHC
Methylcobalamin G Deficiency (MTR) MTR
黏脂質症 Mucolipidosis GNPTAB
Multiple Endocrine Neoplasia MEN1, MEN2A, MEN2B
Multiple Exostoses EXT1, EXT2
Myasthenia Gravis CHRNE
肌小管病變 Myotubular Myopathy MTM
Mitochondrial Myopathy-Complex I NDUFS4
NEMO immunodeficiency NEMO
神經纖維瘤症候群 Neurofibromatosis NF1, NF2
髮-肝-腸症候群 Niemann-Pick disease SMPD1, NPC1
非酮性高甘胺酸血症 Nonketotic hyperglycinemia AMT and GLDC
Noonan Syndrome KRAS, PTPN11 and SOS1
Norrie NDP
Ocular Albinism, X-linked GPR143
Oculocutaneous Albinism TYR and OCA2
Oculodentaldigital Dysplasia GJA1
Optic Atrophy OPA1
鳥胺酸甲胺醯基轉移?缺乏症 Omithine transcarbamylase deficiency OTC
成骨不全症 Osteogenesis imperfecta COL1A2, COL1A1
骨質石化症 Osteopetrosis OSTM1, CLCN7 and TCIRG1
OTOF related deafness OTOF
Pachyonychia Congenita KRT16, KRT6A
Paraganglioma-Nonchromaffin SDHB
Pelizaeus-Merzbacher氏症（慢性兒童型腦硬化症） Pelizaeus-Merzbacher Disease PLP1
Periventricular Heteropia FLNA
Persistent Hyperinsulinemic Hypoglycemia of Infancy ABCC8
Peutz-Jeghers Syndrome STK11
Pfeiffer氏症候群 Pfeiffer syndrome EGFR2
苯酮尿症 Phenylketonuria PAH
Pheochromocytoma SDHB
多囊腎 Polycystic Kidney Disease PKD1, PKD2
Polycystic Kidney Disease, AR PKHD1
Pompe Disease GAA
Propionic Acidemia PCCA
假性副甲狀腺低能症 Pseudohypoparathyroidism GNAS1
Retinitis Pigmentosa RHO, IMPDH1, RPGR
Retinoblastoma RB1
Retinoschesis RS1
瑞特氏症候群 Rett syndrome MeCP2
RhD RHD
Rothmund-Thomson RECQL4
肢近端型點狀軟骨發育不良 Rhizomelic Chondrodysplasia Punctata PCDP1
Sacral Agenesis HLXB9
Sanfillipo SGSH
Sanfilippo A MPSIIIA
Sanfillipo B MPSIIIB, NAGLU
Sathre-Chozen Craniosynostosis TWIST
Shwachman-Diamond syndrome SBDS
嚴重複合型免疫缺乏症 Severe combined immunodeficiency ADA, IL2RG
鐮刀型貧血 Sickle Cell Anemia HBB
Simpson-Golabi-Behmel GPC3
Sjogren-Larsson ALDH3A2
Smith-Lemli-Opitz 氏症候群 Smith-Lemli-Opitz syndrome SLOS
Sorsby Fundus Dystrophy TIMP3
脊髓性肌肉萎縮症 Spinal muscular atrophy SMN1
脊髓小腦退化性動作協調障礙 Spinocerebellar ataxia ATNX1, ATXN2, SCA3, ATXN7
Spondyloepiphyseal Dysplasia SECc
Steroid Sulfatase Deficiency STS
Stomach-Ovarian-Endometrial Cancer CDH1
Supravalvular Aortic Stenosis ELN
Surfactant Pulmonary B SFTPB
Tay-Sachs Disease HEXA
Thrombocytopenia with Beta Thalassemia GATA1
Torsion dystonia DYT1
Treacher Collins氏症候群 Treacher Collins Syndrome TCOF1
結節性硬化症 Tuberous sclerosis TSC1 and TSC2
Ullrich Congenital Muscular Dystrophy COL6A2 and COL6A3
Usher Syndrome MYO7A
VanderWoude -Popliteal Pterygium (IRF6) IRF6
von Hippel-Lindau VHL
瓦登伯格氏症候群 Waardenburg syndrome MITF and PAX3
Walker-Warburg Syndrome FKTN
West Syndrome ARX
Wiskott- Aldrich氏症候群 Wiskott- Aldrich Syndrome WAS
Wilms Tumor WT1
Wolman Lipase A LIPA
Zellweger氏症候群 Zellweger syndrome PEX1
水泡性魚鱗癬樣紅皮症（表皮鬆解角化過度症） Bullous Congenital ichthyosiform erythoderma （epidermolytic hyperkeratosis）