Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases.

摘要: Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. Although individually uncommon, diseases collectively account for ~20% of infant mortality ~18% pediatric hospitalizations. Molecular diagnostic testing is currently available only ~300 disorders. Preconception screening, together genetic counseling carriers, has resulted in remarkable declines the incidence several severe including Tay-Sachs disease cystic fibrosis. However, extension preconception screening to most genes hitherto been impractical. Recently, we reported a carrier screen / test 448 childhood diseases. The current status this reviewed here. Currently, reports analytical validity comprehensive test. As clinical utility contexts described ascertained, article will be updated.