Molecular Genetics Testing Laboratory

The Ashkenazi Jewish Genetic Disease Screen tests for seven common inherited diseases in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome , Familial dysautonomia and Fanconi anemia. Among Ashkenazi Jews, the carrier frequencies and disease incidences for Cystic Fibrosis is 1:3600. The Molecular Genetics Laboratory performs multiplex assays to screen for all seven diseases in individuals at risk.