Gaucher Disease, DNA Mutation Analysis

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The following is a list of what is included in the item above. Click the test(s) below to view what biomarkers are measured along with an explanation of what the biomarker is measuring.

Also known as: Gaucher Disease Dna Mutation Analysis

Gaucher Disease

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The Gaucher Disease, DNA Mutation Analysis test contains 1 test with 1 biomarker.

Gaucher Disease, DNA Mutation Analysis 

Clinical Significance

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.

Alternative Name(s)

Mutation Analysis Gaucher Disease

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