Gaucher Disease

The most common of the lysosomal storage disorders, Gaucher disease, affects multiple organ systems and is clinically classified into several types.  Genetic testing can identify both affected individuals as well as carriers, and can improve medical management.

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Test Code: 1820 Test Name: GBA seq TAT 2-4 weeks Gene: 1
Test Code: 1822 Test Name: GBA 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 GBA, when present (analytic sensitivity).

Test Description

Our GD genetic test includes full gene sequence analysis performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for exons 1-11 of the GBA gene, plus at least 5  bases into the 5’ and 3’ ends of all the introns. Specific mutation analysis for individual GBA mutations known to be in the family is also available.

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