Single gene disorders are genetic conditions caused by the alteration or mutation of a specific gene. They are hereditary and therefore individuals with a family history of a single gene disorder may pass the condition onto their children. Some of the most common single-gene disorders include Beta-thalassemia, Sickle Cell Anemia, Spinal muscular atrophy and Metabolic disorders to name a few.
Curing a child suffering from a genetic disorder Families who have a child suffering from a genetic disorder can cure this child by bone marrow transplant (BMT) (hemoglobinopathies). The method offers PGD coupled with HLA matching. The selected embryos during PGD will be normal and HLA matching with the affected sibling. And once the healthy baby is born, he/she can cure the other child via a bone marrow transplant. It is worth noting that the success rate of curing an affected child by this method could reach over 85%.
-A list of all the single gene disorders that can be identified. Any single gene disorder not listed could be accepted for screening if the gene causing the disease is known. Any single gene disorder with a known mutation could be accepted for PGD. This could be down in collaboration with overseas centers.
- Achondroplasia
- Adenosine Deaminase Deficiency
- Adrenal Hyperplasia
- Alagille syndrome
- Albinism
- Alpha Thalassemia
- Ataxia Telangiectasia
- Auto-immune Lymphoproliferative syndrome
- Beckwith-Wiedemann syndrome
- Beta-Thalassemia, Sickle Cell Anemia
- Bilateral Lebers Congenital Amaurosis
- Biotinidase Deficiency
- Blindness (Usher syndrome)
- Brachydactyly Type B
- CADASIL
- Carbohydrate-Deficient Glycoprotein syndrome, Type I
- Charcot-Marie-Tooth disease
- Congenital Adrenal Hyperplasia (CAH)
- Congenital Cholestasis
- Congenital Analgesia syndrome
- Congenital Disorder of Glycosylation
- Congenital Ichthyosis
- Congenital Myotonia
- Congenital Nephrotic syndrome
- Crigler Najjar syndrome ,
- Cystic Fibrosis
- Deafness (Connexin 26)
- Duchenne/Becker Muscular Dystrophy (DBMD)
- Ehlers–Danlos Syndrome (EDS) or "Cutis Hyperelastica”
- Epidermolysis Bullosa
- Fabry Disease (also Fabry’s Disease or Anderson-Fabry disease)
- Familial Juvenile Nephrophthisis
- Familial Mediterranean fever (FMF)
- Fanconi Anemia
- Fragile X syndrome
- Friedreich Ataxia
- Fructose 1,6-bisphosphate (also known as Harden-youngester)
- Glucose 6 Phosphate Dehydrogenase
- Gaucher disease
- Glutaric Aciduria type 1,2,3
- Glycosyl Decarboxylase (GLDC, AMH)
- Hemochromatosis
- Hemophilia
- Hereditary Spastic Paraparesis (HSP) or the Strümpell-Lorrain
- syndrome
- Hurler–Scheie syndrome (also known as "Mucopolysaccharidosis type I H-S”
- Hurler syndrome (Type 1)
- Hyperoxaluria
- Ichthyosis
- Infantile Polycystic Kidney disease
- Insulin-Dependent Diabetes Mellitus (Type 1 diabetes mellitus)
- Isovaleric academia
- Joubert syndrome
- K-Ras Mutation screening
- Lamellar ichthyosis
- Leukodystrophy
- Leukocyte Adhesion syndrome
- Lipoprotein lipase syndrome
- Maple Syrup Urine disease
- Marfan syndrome
- Maturity-onset diabetes of the young
- Meckel-Gruber syndrome
- Medium Chain acyl CoA Dehydrogenase
- Methylenetetrahydrofolate reductase (MTHFR)
- Methylmalonic Acidemia
- Mitochondrial genome screening
- Mucopolysaccharidosis TYPE I
- Mucopolysaccharidosis-Type III
- Mucopolysaccharidosis-Type IV
- Mucopolysaccharidosis-Type VI
- Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
- Multiple Endocrine Neoplasia-Type1
- Neiman-pick Type B
- Neonatal Cholestasis
- Neurofibromatosis
- Neuronal Ceroid Lipofuscinoses (NCL)
- Nevoid Basal Cell Carcinoma syndrome
- Non Polyposis Colon Cancer
- Non-Insulin Dependent Diabetes
- Noonan syndrome
- Omenn syndrome
- Ornithine transcarbamylase deficiency (OTCD)
- Osteogenesis Imperfecta
- Osteopetrosis
- Peroxisome biogenesis disorder
- Perforin
- Phenylketonuria
- Polycythemia Vera
- Pompe disease
- Prader-Willi syndrome
- Primary Dystonia
- Propionic Aciduria
- Pseudohypoparathyroidism
- Retinitis Pigmentaria
- Rett syndrome
- Sandhoff disease
- Sanjad-Sakati syndrome (SSS)
- Seckel syndrome
- Short Chain acyl CoA Dehydrogenase
- Sickle Cell Anemia
- Skeletal Dysplasia
- Smith-Lemli-Opitz syndrome (SLOS)
- Spina Bifida (or Myelomeningocele)
- Spinal Muscular Atrophy
- Thanatophoric Dysplasia
- Thrombocytopenia (or Thrombopenia)
- Tuberous Sclerosis
- Very Long Chain acyl CoA Dehydrogenase
- Vitamin D Receptors
- Wilson disease
- X-Linked Deafness
- X-linked thrombocytopenia
- Y-chromosome Micro Deletion