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Gaucher Disease, DNA Mutation Analysis
Polymerase Chain Reaction (PCR) • Next Generation Sequencing
See Laboratory Report
Gaucher 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.
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