Description
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
Disease/Condition
Gaucher Disease
Location
Specimen
Type
Genetic,
Next Generation Sequencing,
Molecular (PCR)
Analytes Included
- GBA gene