Ashkenazi Jewish Genetic Diseases: 19 Disease Panel

Ashkenazi Jewish Genetic Diseases: 38 Disease Panel

Sephardic/Mizrahi Jewish Genetic Diseases

Gaucher Disease

Enlargement of spleen and liver, blood abnormalities (anemia, easy bruising, impaired clotting, etc), and bone problems (joint pain, bone fractures, etc). Variable age of onset and severity of symptoms. Successful Enzyme Replacement Therapy exists, reducing or reversing symptoms.

Carrier Frequency: 1 in 15 Ashkenazi Jews

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