Service

Ashkenazi Jewish Genetic Testing

at Chia A. Haddad, MD · Boston

Details.

Optional carrier testing for conditions more commonly found in people of Eastern or Central European Jewish descent. The listed panel includes cystic fibrosis, spinal muscular atrophy, Fragile X, Tay-Sachs disease, Canavan disease, familial dysautonomia, Bloom syndrome, Fanconi anemia group C, Gaucher disease, Maple Syrup Urine disease type 1B, Niemann-Pick disease, glycogen storage disease type 1a, ABCC8-related hyperinsulinism, Joubert syndrome 2, mucolipidosis IV, and Usher syndrome types 1F and 3CF. The conditions tested may vary depending on the processing laboratory and insurance requirements.

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