A member asked:

When do you begin to test for tay-sach's?

A doctor has provided 1 answer
Dr. Golder Wilson answered

Specializes in Clinical Genetics

Tay sachs is a degenerative disorder that presents with an exaggerated startle response (~6 months) and has a "cherry red spot" in the retina. Specific testing is for hexaminidase enzyme deficiency either alone or as a lysosomal enzyme screen that will look for related diseases (sandoff, krabbe). Early diagnosis allows the parents to know recurrence (25%) and consider prenatal testing.

Answered Dec 23, 2018



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