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GM2-Gangliosidosis, Type I - Tay-Sachs Disease


Diagnosis & Tests

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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