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Test Code 479

Gaucher Disease via the GBA1/GBA Gene

GBA1

3 - 4 weeks (12 - 20 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Gaucher disease
  • Individuals of Ashkenazi Jewish descent due to high carrier frequency (1:18)
  • Reproductive partners of individuals with a known pathogenic variant in the GBA1 gene
Method
Sanger Sequencing
Specimen(s)

Blood, Buccal, Saliva, Tissue

Order Options

OTHER OPTIONS
for pricing.

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