Ashkenazi Jewish Genetic Diseases: 19 Disease Panel

Ashkenazi Jewish Genetic Diseases: 38 Disease Panel

Sephardic/Mizrahi Jewish Genetic Diseases

Tay-Sachs Disease

Progressive disease of the central nervous system leading to loss of coordination, seizures, difficulty swallowing, poor pulmonary function, blindness, paralysis, severe mental retardation and shortened life expectancy (3-5 years).

Tay-Sachs enzyme analysis using blood must be done in addition to DNA for complete screening.

Carrier Frequency: 1 in 27 Ashkenazi Jews

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