EnglishPGT-M – 單基因遺傳病植入前檢測
幫助夫婦篩選沒有遺傳家族單基因病的胚胎進行移植。
我們的PGT實驗室，從2007 年至今，已經對超過130 種遺傳病進行PGT。
|
Disease |
Inheritance |
MIM no. |
| 15q11.2 deletion syndrome | Autosomal dominant |
615656 |
| 16p11.2 duplication syndrome | Autosomal dominant |
614671 |
| 16p13.11 microdeletion syndrome | Autosomal dominant |
261236 |
| 3-Methylcrotonyl-CoA carboxylase 1 deficiency | Autosomal recessive |
210200 |
| Achondroplasia | Autosomal dominant |
100800 |
| Aicardi-Goutieres syndrome | Autosomal recessive |
610329 |
| Alpha-thalassemia | Autosomal recessive |
604131 |
| Alport syndrome 1 | X-linked dominant |
301050 |
| Alport syndrome 2 | Autosomal recessive |
203780 |
| Amyotrophic lateral sclerosis 1 | Autosomal dominant |
105400 |
| Androgen Insensitivity syndrome | X-linked recessive |
300068 |
| Anterior segment dysgenesis 3 | Autosomal dominant |
601631 |
| Aromatic L-amino acid decarboxylase deficiency | Autosomal recessive |
608643 |
| Axenfeld-Rieger syndrome type 3 | Autosomal dominant |
602482 |
| Barth Syndrome | X-linked recessive |
302060 |
| Becker muscular dystrophy | X-linked recessive |
300376 |
| Beta-thalassemia | Autosomal recessive |
613985 |
| Branchiootorenal Syndrome 1 | Autosomal dominant |
113650 |
| Breast Cancer, Familial | Autosomal dominant |
114480 |
| Breast-ovarian cancer, familial 1 | Autosomal dominant |
604370 |
| Breast-ovarian cancer, familial, 2 | Autosomal dominant |
612555 |
| Cardiomyopathy, familial hypertrophic, 2 | Autosomal dominant |
115195 |
| Ceroid Lipofuscinosis, neuronal, 7 | Autosomal recessive |
610951 |
| Charcot-Marie-Tooth Disease | X-linked dominant |
302800 |
| chromosome 22q11.2 deletion syndrome | Autosomal dominant |
188400 |
| Cleidocranial Dysplasia | Autosomal dominant |
119600 |
| Citrullinemia, type II, neonatal-onset | Autosomal recessive |
605814 |
| Colorectal cancer, hereditary nonpolyposis, type 5 (HNPCC5) | Autosomal dominant |
614350 |
| Colorectal cancer, hereditary nonpolyposis, type 8 (HNPCC8) | Autosomal dominant |
613244 |
| Congenital adrenal hyperplasia | Autosomal recessive |
201910 |
| Congenital dyserythropoietic anaemia | Autosomal recessive |
613673 |
| Culler-Jones Syndrome | Autosomal dominant |
615849 |
| Cyanosis, transient neonatal | Autosomal dominant |
613977 |
| Cystic fibrosis | Autosomal recessive |
219700 |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | Autosomal recessive |
600791 |
| Diamond-Blackfan Anemia 8 | Autosomal dominant |
612563 |
| Dilated cardiomyopathy | Autosomal dominant |
613426 |
| Dilated cardiomyopathy-1G | Autosomal dominant |
604145 |
| Dilated Cardiomyopathy-1HH | Autosomal dominant |
613881 |
| Distal Arthrogryposis type 2B1 | Autosomal dominant |
601680 |
| Duchenne muscular dystrophy | X-linked recessive |
310200 |
| Ectodermal dysplasia and immunodeficiency 2 | Autosomal dominant |
612132 |
| Ehlers-Danlos syndrome, classic type | Autosomal dominant |
130000 |
| Fabry Disease | X-linked |
301500 |
| Familial adenomatosis polyposis 1 | Autosomal dominant |
175100 |
| Familial amyloidotic polyneuopathy | Autosomal dominant |
105210 |
| Fetal akinesia deformation sequence 2 | Autosomal recessive |
618388 |
| Fetal hemoglobin quantitative trait locus 1 | Autosomal dominant |
141749 |
| Fragile X syndrome | X-linked dominant |
300624 |
| GJB2-related DFNB1 nonsyndromic hearing loss and deafness | Autosomal recessive |
220290 |
| Glutaric Aciduria type II | Autosomal recessive |
231680 |
| Glycine Encephalopahty | Autosomal recessive |
605899 |
| Glycogen Storage Disease Ib | Autosomal recessive |
232220 |
| Glycogen storage disease II | Autosomal recessive |
232300 |
| Hemophilia A | X-linked recessive |
306700 |
| Hemophilia B | X-linked recessive |
306900 |
| Hereditary Multiple Osteochondromas | Autosomal dominant |
608177 |
| Hereditary Multiple Osteochondromas | Autosomal dominant |
133700 |
| Holoprosencephaly 9 | Autosomal dominant |
610829 |
| Huntington’s Disease | Autosomal dominant |
143100 |
| Hypertrophic cardiomyopathy I | Autosomal dominant |
192600 |
| Hypohydrotic ectodermal dysplasia | X-linked recessive |
305100 |
| Hypophospatasia | Autosomal dominant |
146300 |
| Insensitivity to pain, congenital, with anhidrosis | Autosomal recessive |
256800 |
| Joubert syndrome 17 | Autosomal recessive |
614615 |
| Kennedy disease | X-linked recessive |
313200 |
| Leri-Weill Dyschondrosteosis | Pseudoautosomal dominant |
127300 |
| Lesch-Nyhan Syndrome | X-linked recessive |
300322 |
| Loeys-Dietz syndrome 2 | Autosomal dominant |
610168 |
| Long QT syndrome I | Autosomal dominant |
192500 |
| Lynch Syndrome I | Autosomal dominant |
120435 |
| Lynch Syndrome II | Autosomal dominant |
609310 |
| Marfan Syndrome | Autosomal dominant |
154700 |
| MEGDEL syndrome | Autosomal recessive |
614739 |
| Metachromatic leukodystrophy | Autosomal recessive |
250100 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Autosomal recessive |
251000 |
| microduplication / microdeletion of uncertain significance | Autosomal dominant |
NA |
| Mitochondrial Complex 1 Deficiency, nuclear type 16 | Autosomal recessive |
618238 |
| Mitochondrial Complex I deficiency | Autosomal recessive |
252010 |
| Mitochondrial encephalopathy, lactic acidosis and stroke like (MELAS) syndrome | Mitochondrial inheritance |
540000 |
| Mitochondrial myopathy and ataxia | Autosomal recessive |
617675 |
| Multiple Endocrine Neoplasia type I syndrome | Autosomal dominant |
131100 |
| Multiple exostoses type II | Autosomal dominant |
133701 |
| Muscular dystrophy, congenital | Autosomal recessive |
607855 |
| Muscular dystrophy, limb-gridle, autosomal recessive 23 | Autosomal recessive |
618138 |
| Myasthenic syndrome congenital 11 | Autosomal recessive |
616326 |
| Myopathy Myofibrillar 5 | Autosomal dominant |
609524 |
| Myotonia congenita, atypical, acetazolamide-responsive | Autosomal dominant |
608390 |
| Myotonic Dystrophy type 1 | Autosomal dominant |
160900 |
| Nemaline Myopathy | Autosomal recessive |
615348 |
| Neurofibromatosis type I | Autosomal dominant |
162200 |
| Niemann-Pick Disease Type A | Autosomal recessive |
257200 |
| Niemann-Pick Disease Type B | Autosomal recessive |
607616 |
| Noonan Syndrome 1 | Autosomal dominant |
163950 |
| Oculocutaneous albinism, type VIII | Autosomal recessive |
619165 |
| Opitz/GBBB syndrome | X-linked recessive |
300000 |
| Orofacial cleft-6 | Autosomal dominant |
608864 |
| Osteogenesis Imperfecta | Autosomal dominant |
166200 |
| Osteogenesis Imperfecta type III | Autosomal dominant |
259420 |
| Osteogenesis Imperfecta type IV | Autosomal dominant |
166220 |
| Pancreatic agenesis and congenital heart defects | Autosomal dominant |
600001 |
| Pendred Syndrome | Autosomal recessive |
274600 |
| Peutz-Jeghers Syndrome | Autosomal dominant |
175200 |
| Phenylketonuria | Autosomal recessive |
261600 |
| Pheochromocytoma | Autosomal dominant |
171300 |
| Polycystic kidney disease, adult type I | Autosomal dominant |
173900 |
| Propionic acidemia | Autosomal recessive |
606054 |
| Pyridoxamine 5′-phosphate oxidase deficiency (PNPOD) | Autosomal recessive |
610090 |
| Pyruvate kinase deficiency of red cells | Autosomal recessive |
266200 |
| Restrictive dermopathy, lethal | Autosomal recessive |
275210 |
| Schwannomatosis 2; SWN2 | Autosomal dominant |
615670 |
| Schwannomatosis-2 | Autosomal dominant |
615670 |
| Seizures, benign neonatal, type 2 | Autosomal dominant |
121201 |
| Sengers syndrome | Autosomal recessive |
212350 |
| Severe Combined Immunodeficiency | Autosomal recessive |
601457 |
| Shwachman-Diamond syndrome | Autosomal recessive |
260400 |
| Skeletal Dysplasia | Autosomal dominant |
120140 |
| Spinal muscular atrophy Type I | Autosomal recessive |
253300 |
| Spinocerebella ataxia type 3 | Autosomal dominant |
109150 |
| Spinocerebellar ataxia 17 | Autosomal dominant |
607136 |
| Spinocerebellar ataxia I | Autosomal dominant |
164400 |
| Split-hand/foot malformation | Autosomal dominant |
246560 |
| Spondylocostal Dysostosis 1 | Autosomal recessive |
277300 |
| Spondyloepimetaphyseal dysplasia | Autosomal dominant |
616583 |
| Spondyloperipheral Dysplasia | Autosomal dominant |
271700 |
| Synpolydactyly | Autosomal dominant |
186000 |
| Thrombocytopenia 1 | X-linked recessive |
313900 |
| Thrombophilia 7 due to antithromombin III deficiency | Autosomal dominant |
613118 |
| Tuberous Sclerosis-2 | Autosomal dominant |
613254 |
| Type II Collagen Disorders | Autosomal dominant |
NA |
| very long chain acyl-CoA dehydrogenase deficiency | Autosomal recessive |
201475 |
| von Hippel Lindau disease | Autosomal dominant |
193300 |
| Waardenburg Syndrome | Autosomal dominant |
193500 |
| Wilson disease | Autosomal recessive |
277900 |
| Wiskott-Aldrich Syndrome | X-linked recessive |
301000 |
| X-linked dilated cardiomyopathy | X-linked |
302045 |
| X-linked Juvenile Retinoschisis | X-linked recessive |
312700 |
| Xq28 duplication | X-linked recessive |
NA |