17 Common Single-gene Disorders

17 common single-gene disorders panel of CapitalBio use NGS combined with multi-method platform to detect common recessive genetic disease, multiple variant types are detected at one time. The diseases screened include Citrullinemia, Albinism, Duchenne Muscular Dystrophy, Pompe's Disease, Hereditary Deafness, Gaucher Disease, Galactosemia, α/β-Thalassemia, Wilson's Disease, Spinal Muscular Atrophy, Phenylketonuria, Congenital Adrenal Hyperplasia, Hemophilia A/B, Polycystic Kidney Disease, Mucopolysaccharidosis Type I/II, G6PD Deficiency.