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Clinical Questionnaire for Tay-Sachs Disease Screening
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
1. Kaback M. Hexosaminidase A deficiency. GeneReviews. Available at www.genetests.org. Accessed: May 19, 2006.
2. American College of Obstetricians and Gynecologists. Prenatal and Preconceptional Carrier Screening for Genetics Diseases in Individuals of Eastern European Jewish Descent. Washington, DC: ACOG; August, 2004. Technical Bulletin 298.
3. Triggs-Raine B, Richard M, Wasel N, et al. Mutational analyses of Tay-Sachs disease: Studies on Tay-Sachs carriers of French Canadian background living in New England. Am J Hum Genet. 1995; 56(4):870-879.PubMed 7717398
4. Akerman BR, Zielenski J, Triggs-Raine BL, et al. A mutation common in non-Jewish Tay-Sachs disease: Frequency and RNA studies. Human Mutat. 1992; 1(4):303-309.PubMed 1301938
5. Gross SJ, Pletcher BA, Monaghan KG, and the Professional Practice and Guidelines Committee. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008; 10(1):54-56.PubMed 18197057
6. Monaghan KG, Feldman GL, Palomaki GE, et al. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med. 2008; 10(1):57-72.PubMed 18197058