Ashkenazi panel (basic)

Ashkenazi panel (basic)
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Ashkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population. This panel screens for any of the 4 disorders for which testing is recommended by the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) (4-test panel).

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Ashkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population. Even though most of these diseases are severe and can cause early death, some can be treated to reduce symptoms and prolong life. Some of these diseases can be found during pregnancy through chorionic villus sampling (CVS) or amniocentesis. This testing is done usually if one or both parents are carriers of a genetic disease. Diseases in this group include: Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia Group C, Gaucher Disease, Glycogen Storage Disease Type 1a, Maple Syrup Urine Disease, Mucolipidosis IV, Niemann-Pick Disease Types A and B, Tay-Sachs Disease.

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