Ashkenazi Jewish Genetic Screening Algorithm
• Bloom syndrome
• Canavan disease
• Familial dysautonomia
• Fanconi anemia group C
• Gaucher disease
• Mucolipidosis type IV
• Niemann-Pick disease type A
• Tay-Sachs disease
• ABCC8-related hyperinsulinism
• Glycogen storage disease type 1A
• Joubert syndrome type 2
• Maple syrup urine disease type 1B
• Usher syndrome type 1F
• Usher syndrome type 3
• Lipoamide dehydrogenase deficiency
• NEB-related nemaline myopathy
ARUPConsult @ARUPLabs
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