Clinical Questionnaire for Tay-Sachs Disease Screening

Tay-Sachs Disease Screening Questionnaire

This form should be filled out when Tay-Sachs disease biochemical or DNA testing is ordered (tests 510412, 511246, 510404, 333561, or 332859). The form should be completed by the ordering physician's office and should accompany the sample. Please call 800-345-GENE with any questions.

Tay-Sachs disease is a lysosomal storage disease that causes progressive neurological deterioration. People of Ashkenazi Jewish and French-Canadian ancestry are at increased risk to be carriers of this disorder. There are several methods available for carrier screening, including enzyme testing in serum or leukocytes and direct DNA screening for common mutations. Enzyme testing is not mutation-dependent and is suitable for testing in all ethnic groups. Please note that the serum enzyme test is not accurate in pregnant women and women who take oral contraceptives. LabCorp’s DNA test will identify >94% of carriers who are Ashkenazi Jewish, 80% of carriers who are French-Canadian, and approximately 25% of carriers who are non-Jewish Caucasian. A detection rate for LabCorp's DNA test is not available for other ethnic backgrounds.1-6

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