胚胎著床前基因診斷

Genetic Disorder (Gene)

A

Aarskog (X-FGD1)

Achondroplasia (FGFR3)

Actin-Nemalin Myopathy (ACTA1)

Adenomatous Polyposis Coli (FAP-APC)

Adrenoleukodystrophy (ABCD1)

Agammaglobulinemia-Bruton (BTK)

Alagille Syndrome (JAG1)

Aldolase A deficiency (ALDOA)

Alpha Thalassemia (HBA1)

Alpha Thalassemia/Mental Retard (ATRX)

Alpha-1-Antitrypsin Deficiency (AAT)

Alport Syndrome (COL4A5)

ALS: Amyotrophic Lateral Sclerosis 1, (SOD1)

Alzheimer Disease 3 (PSEN1)

Amegakaryocytic Thrombocytopenia, Congenital (CAMT)

Amyloidosis I-Transthyretin (TTR)

Angioedema, Hereditary (C1NH)

Ankylosing spondylitis (Susceptibility to, HLA-B27)

Antithrombin Deficiency (SERPINC1)

Apert Syndrome (FGFR2)

Ataxia Telangiectasia (ATM)

B

Basal Cell (Gorlin) Synd (PTCH)

Beta Thalassemia (HBB)

Bloom Syndrome (BLM)

Brachydactyly-Type C (GDF5)

Breast Cancer (BRCA1 & 2)

C

CACH-Ataxia (EIF2B4)

CADASIL (Notch3)

Canavan Disease (ASPA)

Cardiomyopathy, Barth Type Dilated (TAZ)

Cardiomyopathy, Dilated Hypertrophic (MYH7)

Dilated Hypertrophic Cardiomyopathy MYH7

Carnitine-AcylCarn Translocase (SLC25A20)

Ceroid-Lipofuscinoses-Batten Disease (PPT1)

Ceroid-Lipofuscinoses-Finish Type (CLN5)

Ceroid-Lipofuscinoses-Juvenile Type (CLN3)

Charcot Marie Tooth 1A (PMP22)

Charcot Marie Tooth Neuropathy - 2E, (NF-L, NEFL)

Charcot-Marie-Tooth neuropathy 1B (MPZ)

Cherubism (SH3BP2)

Choroideremia (CHM)

Chronic Granulomatous Disease (CYBB)

Citrullinemia (ASS)

Cleidocranial Dysplasia (RUNX2)

Cockayne syndrome type B (CSB; ERCC6)

Colon Cancer (HNPCC; MSH2)

Congenital Adrenal Hyperplasia (CYP21A2 )

Congenital Disorder Glycosylation, 1a - CDG-1a (PMM2)

Congenital Disorder Glycosylation, 1c - CDG-1c (ALG6)

Congenital Disorder Glycosylation, 1e - CDG-1e (DPM1)

Congenital Disorder Glycosylation, 1g - CDG-1g (ALG12)

Congenital Erythropoietic Porphyria (UROS)

Cosman-Cyclic Neutropenia (ELA2)

Crigler Najjar (UGT1A1)

Crouzon Syndrome (FGFR2)

Cystic Fibrosis (CFTR)

Cystinosis (CTNS)

D

Darier Disease (ATP2A2)

Deafness, Recessive - (GJB2 Connexin 26)

Deafness, Recessive - (GJB6 Connexin 30)

Deafness, Recessive (DFBN1)

Denys-Drash Wilms Tumor (WT1)

Desmin Storage Myopathy (DES)

Diamond Blackfan (DBA-RPS19)

Diamond Blackfan (DBA2) Not RPS19

Duchenne muscular dystrophy (DMD)

Dystonia (TOR1A)

Dystrophia Myotonica-1 (DMPK) CTGrpt

Dystrophia Myotonica-2 (DM2; PROMM) CCTGrpt

E

Ectodermal Dysplasia I EDA1

Ehlers-Danlos COL3A1

Emery-Dreifuss X-Linked Muscular Dystrophy

Emery-Dryfuss AutoDom Muscular Dystrophy (LMNA)

Epidermolysis Bullosa (KRT5)

Epidermolysis Bullosa Simplex KRT14

Epidermolysis Bullosa/Pyloric Atresia - ITGB4

Epidermolysis Dystrophic Bullosa-COL7A1

Epidermolytic Hyperkeratosis (KRT10)

F

Fabry (GLA)

Facioscapulohumeral Dystrophy (FSHD)

Factor 13 Deficiency (F13A1)

Familial Dysautonomia (IKBKAP)

Familial Exudative Vitreoretinopathy FZD4

Fanconi Anemia A (FANCA)

Fanconi Anemia C (FANCC)

Fanconi Anemia F (FANC F)

Fanconi Anemia J (FANCJ, BRIP1)

Fanconia Anemia G (FANCG)

Fragile X (FMR1)

Friedreich Ataxia I (FRDA)

G

Galactosemia (GALT)

Gastric Cancer, Cadherin-E-1 (CDH1)

Gaucher Disease (GBA)

Genotyping-Molecular Signature-Fingerprinting

Glutaric Acidemia 2A (ETFA)

Glycine Encephalopathy GLDC 80% (NKH)

Glycogen Storage Disease I, Von Girke - GSD1a (G6PC)

Glycogen Storage Disease 2, Pompe - GSD2 (GAA)

GM1 Gangliosidosis, Morquio (GLB1)

H

Hallervorden-Spatz-Pantothenate (PANK2)

Hemophilia A (Factor 8)

Hemophilia B (Factor 9)

Hereditary Hemmorrhagic Telangietasia Type 1 (HHT1)

Histiocytosis, Hemophagocytic Lympho- (HLH; PRF1)

HLA DRBeta1 Class II MHC (HLA DRB1*)

HLA-Histocompatability, Transplantation Matching (HLA)

Hunter syndrome (IDS)

Huntington Disease (HD)

Hurler Syndrome (MPSI-IDUA)

Hydrocephalus:X-Linked L1CAM

Hyper IgM (CD40-ligand; TNFSF5)

Hypokalemic periodic paralysis (SCN4A-HYPP)

Hypophosphatasia (ALPL)

Hypophosphatemic VitD Rickets

I

Icthyosis, X-Steroid Sulf Def

Icthyosis.Congenital, Harlequin (ABCA12)

Incontinentia Pigmenti (NEMO)

J

K

KELL Antigen (KEL)

Kennedy-Spinal bulbar (AR)

Krabbe (GALC)

L

Leber Retinal Congenital Amaurosis-I (GUCY2D)

Leber Retinal Congenital Amaurosis-X (CEP290)

Lesch-Nyhan (HPRT1)

Leukemia, Acute Lymphocytic, Transplantation (ALL)

Leukemia, Acute Myelogenous, Transplantation (AML)

Leukemia, Chronic Myelogenous, Transplantation (CML)

Leukocyte Adhesion Deficiency (ITGB2)

Li-Fraumeni Syndrome (TP53)

Long-Chain-AcylCoA Dehydrogenase (LCHAD:HADHA)

Lymphedema-Hereditary (FOXC2)

Lymphoproliferative Disorder, X-linked (SH2D1A)

M

Machado-Joseph Spinocerebellar Ataxia-3 (SCA3)

Macular Dystr-Best Vitelliform (VMD2)

Maple Syurp Urine Dz E1-Beta (BCKDHB)

Marfan Syndrome (FBN1)

Meckel-Gruber Syndrome-3 (MKS3)

Menkes (ATP7A)

Merosin-deficient congenital muscular dystrophy type 1A (MDC1A)

Metachromatic Leukodystrophy (ARSA)

Methylcobalamin G Deficiency (MTR)

Methylmalonic Acidemia (MUT)

Mitochondrial Myopathy-Complex I (NDUFS4)

Mucolipidosis 2, I Cell (GNPTAB)

Multiple Endocrine Neoplasia 1 (MEN1)

Multiple Endocrine Neoplasia 2 MEN2 (RET)

Multiple Extostoses (EXT1)

Multiple Extostoses (EXT2)

Myasthenia Gravis (CHRNE)

Myotubular Myopathy X-Linked (MTM)

N

NEMO immunodeficiency (IKBKG)

Nephrosis - Finnish (NPHS1)

Neurofibromatosis 1 (NF1)

Neurofibromatosis 2 (NF2)

Niemann Pick - Type A (SMPD1)

Niemann Pick - Type C (NPC1)

NonKetotic Hyperglycinemia (GLDC)

Noonan (PTPN11)

Norrie (NDP)

O

Occulocutaneous Albinism II- (OCA2)

Occulocutaneous Albinism I, OCA1 (TYR)

Ocular Albinism-X Linked (GPR143)

Oculodentodigital Dysplasia (GJA1)

Optic Atrophy 1 (OPA1)

Ornithine transcarbamylase deficiency (OTC)

Osteogenesis Imper II/IV & Chondrodysplasias(COL1A2)

Osteogenesis Imperfecta I (COL1A1)

Osteopetrosis (CLCN7)

Osteopetrosis (TCIRG1;APT6)

P

Pachyonychia Congenita (KRT6A)

Pachyonychia Congenita (KRT16A)

Pancreatitis, Chronic Calcific (PRSS1)

Paraganglioma-Nonchromaffin (SDHB)

Pelizaeus-Merzbacher, X-linked (PLP1)

Periventricular Heteropia (FLNA)

Persistent Hyperinsulinemic Hypoglycemia of Infancy (ABCC8)

Pfeiffer Syndrome (FGFR2)

Phenylketonuria PKU (PAH)

Pheochromocytoma (SDHB)

Polycystic Kidney Disease (PKD1)

Polycystic Kidney Disease (PKD2)

Polycystic Kidney Disease, Recessive (PKHD1)

Pompe, Glycogen Storage Disease 2, GSD2 (GAA)

Propionic Acidemia (PCCA)

Pseudohypoparathyroidism 1a (GNAS1)

Q

R

Retinitis Pigmentosa (RHO)

Retinitis Pigmentosa adRP10 (IMPDH1)

Retinitis Pigmentosa X-linked (RPGR)

Retinoblastoma 1 (RB1)

Retinoschisis, (RS1)

Rhesus blood group D (RHD)

Rhizomelic Chondrodysplasia Punctata (RCDP1)

S

Sacral Agenesis (HLXB9)

Sanfilippo A (MPSIIIA)

Sanfillipo B (MPSIIIB) (NAGLU)

Sathre-Chotzen Craniosynostosis (TWIST)

SCIDX1 (IL2RG)

Severe Comb Immunodef (SCID)

Shwachman-Diamond Syndrome (SBDS)

Sickle Cell (HBB)

Smith-Lemli-Opitz (SLOS)

Sorsby Fundus Dystrophy (TIMP3)

Spinal muscular atrophy SMA (SMN1)

Spinocerebellar Ataxia-1, SCA1 (ATNX1)

Spinocerebellar ataxia-2, SCA2 (ATXN2)

Spinocerebellar Ataxia-3, Machado-Joseph (SCA3)

Spinocerebellar Ataxia-7 (ATXN7)

Spondyloepiphyseal dysplasia, congenital (SEDc)

Steroid Sulfatase Deficiency (STS)

Stomach-Ovarian-Endometrial Cancer (CDH1)

Supravalvular Aortic Stenosis (ELN)

Surfactant-Pulmonary B (SFTPB)

T

Tay-Sachs (HEXA)

Torsion dystonia (DYT1)

Treacher Collins (TCOF1)

Transplantation-BoneMarrow-StemCell (HLA locus)

Tuberous Sclerosis 1 (TSC1)

Tuberous Sclerosis 2 (TSC2)

U

V

VanderWoude -Popliteal Pterygium (IRF6)

Von Hippel-Lindau Disease (VHL)

W

Waardenburg Syndrome Type II (MITF)

Waardenburg Syndrome-I/III (PAX3)

West Syndrome (ARX)

Wilms Tumor (WT1)

Wiskott-Aldrich Syndrome (WAS)

Wolman Lipase A (LIPA)

X

Y

Z

Zellweger Peroxisome Disease (PEX1)