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Tay-Sachs Disease Evaluation
Tests are necessary to make the diagnosis of Tay-Sachs disease. Tests can also identify genetic carriers of the disease.
Tests that may be used to evaluate Tay-Sachs disease include:
- Serum hexosaminidase A level
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PubMed Tay-Sachs Disease References
- Gason AA, Sheffield E, Bankier A, Aitken MA, Metcalfe S, Barlow Stewart K, Delatycki MB. Evaluation of a Tay-Sachs disease screening program. Clin Genet. 2003 May;63(5):386-92. 
- Kaplan F. Tay-Sachs disease carrier screening: a model for prevention of genetic disease. Genet Test. 1998;2(4):271-92. 
- Mugikura S, Takahashi S, Higano S, Kurihara N, Kon K, Sakamoto K. MR findings in Tay-Sachs disease. J Comput Assist Tomogr. 1996 Jul-Aug;20(4):551-5. 
- Sutton VR. Tay-Sachs disease screening and counseling families at risk for metabolic disease. Obstet Gynecol Clin North Am. 2002 Jun;29(2):287-96.