Tay-Sachs Disease: Diagnosis & Tests (Hexosaminidase A Deficiency, GM2-Gangliosidosis, Type I)

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Tay-Sachs Disease

Alternate Names : Hexosaminidase A Deficiency, GM2-Gangliosidosis, Type I

Tay-Sachs Disease | Symptoms & Signs | Diagnosis & Tests | Prevention & Expectations | Treatment & Monitoring

How is the disease diagnosed?

A parent or healthcare provider may think an infant has a problem after observing the child. When the disease is suspected, hexosaminidase A is measured in blood or other tissue. If the enzyme is deficient, diagnosis is confirmed. DNA testing is possible for Tay-Sachs disease. Diagnosis before birth is possible through amniocentesis.

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Tay-Sachs Disease: Symptoms & Signs		Tay-Sachs Disease: Prevention & Expectations

Author: Ronald J. Jorgenson, DDS, PhD, FACMG
Reviewer: Eileen McLaughlin, RN, BSN
Date Reviewed: 08/06/01

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