Stephen J. Schueler, M.D.

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Tay-Sachs Disease Evaluation

The evaluation of Tay-Sachs disease starts with a history and physical examination.

Physical findings in someone with Tay-Sachs disease may include:

  • Red spot on the retina
    • May be present on eye examination.

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

Continue to Tay-Sachs Disease Treatment

Last Updated: Jan 5, 2011 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Tay-Sachs Disease References
  1. 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. [12752571]
  2. Kaplan F. Tay-Sachs disease carrier screening: a model for prevention of genetic disease. Genet Test. 1998;2(4):271-92. [10464605]
  3. 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. [8708054]
  4. 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. [12108829]
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