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| | 2. Single Gene Disorder: Autosomal recessive, Autosomal dominant and X-Linked | | |
| | Achondroplasia | |
| | Adenosine Deaminase Deficiency | |
| | Adrenal Hyperplasia | |
| | Alagille Syndrome | |
| | Albinism | |
| | Alpha Thalassemia | |
| | Ataxia Telangectasia | |
| | Auto-immune Lymphoprolepherative Syndrome | |
| | Beckwith-Wiedernmann Syndrome | |
| | Beta Thalassemia, Sickle Cell Anemia | |
| | Bilateral Lebers Congenital Amaurosis | |
| | Biotidinase Deficiency | |
| | Blindness (Usher syndrome) | |
| | Brakytachtyly Type B | |
| | CADASIL | |
| | Carbohydrate-Deficient Glycoprotein Syndrome, Type I | |
| | Charcot-marie Tooth Disease | |
| | Congenitail Adrenal Hyperplasia | |
| | Congenitail Cholestosis | |
| | Congenital Analgesia Syndrome | |
| | Congenital Disorder of Glycosylation | |
| | Congenital Icthysosis | |
| | Congenital Mytonia | |
| | Congenital Nephrosis | |
| | Criggler Najjar Syndrome | |
| | Cystic Fibrosis | |
| | Deafness (Connexin 26) | |
| | Duchenne Backet Muscular Dystrophy | |
| | Ehler Donlos Syndrome | |
| | Epidermolysis Bullosa | |
| | Fabrys Disease | |
| | Familial Juvenile Nephrosis | |
| | Familial Meditteranian Fever Disease | |
| | Fanconi Anemia | |
| | Fragile X Syndrome | |
| | Friedreich Ataxia | |
| | Fructose 1,6 Biphosphate | |
| | Glucose 6 Phosphate Dehydrogenase | |
| | Gaucher Disease | |
| | Glutaric Aciduria type1,2,3 | |
| | Glycosyl Decarboxylase (GLDC,AMH) | |
| | Hemachromatosis | |
| | Hemophilia | |
| | Heraditary Spastic Paraparesis | |
| | Huler-schei Syndrome | |
| | Hurler Syndrome (Type 1) | |
| | Hyperoxaluria | |
| | Icythyosis | |
| | Infartile Polycystic Kidney Disease | |
| | Insulin-Dependent Diabetes Mellitus (type 1 diabetus mellitus) | |
| | Isovaleric Aciduria | |
| | Joubert Syndrome | |
| | K-Ras Mutation screening | |
| | Lamellar Ichosis | |
| | Leucodystrophia | |
| | 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 | |
| | Methylene Tetrahydrofolate Reductase | |
| | Methylmalonic Acidemia | |
| | Mitochondrial genome screening | |
| | Mucopolysaccharidosis TYPE I | |
| | Mucopolysaccharidosis-Type III | |
| | Mucopolysaccharidosis-Type IV | |
| | Mucopolysaccharidosis-Type VI | |
| | Multiple Acyl coA deficiency | |
| | Multiple Endocrine Neoplasia-Type1 | |
| | Neiman-pick Type B | |
| | Neonatal Cholestasis | |
| | Neurofibromatosis | |
| | Neuronal Ceroid Lipopherosis | |
| | Nevoid Basal Cell Carcinoma Syndrome | |
| | Non Polyposis Colon Cancer | |
| | Non-Insulin Dependent Diabetes | |
| | Noonan Syndrome | |
| | Omenn Syndrome | |
| | Ornithine Transcarbomylase Deficiency | |
| | Osteogenesis Imperfecta | |
| | Osteopetrosis | |
| | Paroxymal Biogene Disorder | |
| | Perforin | |
| | PhenylKetonuria | |
| | Polycythemia Vera | |
| | Pompe Disease | |
| | Prader Weely Syndrome | |
| | Primary Dystonia | |
| | Pseudohypoparathyrosis | |
| | Retinitis Pigmentaris | |
| | Rett Syndrome | |
| | Sandhoff Disease | |
| | Sanjad Sakaty | |
| | Seckel Disease | |
| | Short Chain acyl CoA Dehydrogenase | |
| | Skeletal Dysplasia | |
| | Smith lemli optiz syndrome | |
| | Spina Bifida | |
| | Spinal Muscular Atrophy | |
| | Thanatophoric Dysplasia | |
| | Thrombcytopenia | |
| | Tuberous Sclerosis | |
| | Very Long Chain acyl CoA Dehydrogenase | |
| | Vitamin D Receptors | |
| | Wilson disease | |
| | X-Linked Deafness | |
| | X-linked thrombocytopenia | |
| | Y-chromosome Micro Deletion |