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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.

17 common single gene disorders

Features of 17 Common Single-gene Disorders

  • Comprehensive - Covers 27 gene exons, splice sites and intronic hotspot mutations.

  • High accuracy - Sequencing depth>200×, accuracy>99%.

Purpose of 17 Common Single-gene Disorders

  • Provide fertility guidance for couples who have family history or have given birth to sick children.

  • Detect carriers of disease-causing variants, to achieve the purpose of early detection and early treatment.

Specification of 17 Common Single-gene Disorders

Sample TypeRequirements
Whole blood (EDTA tube)Adults≥5mL; Children≥2mL
Blood spot cardAt least 4 blood spots (diameter 8mm)

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