Gaucher Disease, DNA Mutation Analysis

The Gaucher Disease, DNA Mutation Analysis test contains 1 test with 1 biomarker. Gaucher Disease, DNA Mutation Analysis Clinical SignificanceGaucher Disease is an autosomal recessive lysosomal storage disease that leads to the accumulation of glucocerebroside in tissues. Approximately 1 in 10 individuals of Ashkenazi Jewish heritage is a carrier. Treatment is available that averts severe morbidity and mortality.Alternative Name(s)Mutation Analysis Gaucher Disease
Gaucher Disease
This test requires in-person visit to provider's patient service station near your location
In-person visit
 Venous blood will be collected from your vein by healthcare professional
Blood (Venous)
Genetic, Next Generation Sequencing, Molecular (PCR)
Analytes Included
  • GBA gene