4 doctors weighed in:
When do you begin to test for tay-sach's?
4 doctors weighed in

Dr. Golder Wilson
Clinical Genetics
3 doctors agree
In brief: In infancy
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.

In brief: In infancy
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.
Dr. Golder Wilson
Dr. Golder Wilson
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