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Evaluation


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

Physical findings in someone with Tay-Sachs disease may include:
  • Red spot on the retina Images
    • May be present on eye examination. Images
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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Last Updated: Sep 4, 2008  References
Authors: Stephen J. Schueler, MDJohn H. Beckett, MDD. Scott Gettings, MD
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