Tay-Sachs Disease

Tay-Sachs disease is an inherited, progressive, lysosomal storage disorder that causes neurological deterioration. Children with this condition may have weakness, seizures, and blindness in infancy. While most common in people of Ashkenazi Jewish descent, it can occur in any ancestry group.

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Test Code: 1240 Test Name: HEXA seq TAT 2-4 weeks Gene: 1
Test Code: 1242 Test Name: HEXA specific site analysis TAT 7-14 days Gene: 1

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Mutation Detection Rate

This test can detect >99.9% of described mutations in HEXA, when present (analytic sensitivity).

Test Description

Full gene sequence analysis is performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for each exon, plus at least 5 bases into the 5’ and 3’ ends of all the introns.

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