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Diagnostic Services

Genetics Lab


Gaucher Disease Mutation Analysis (11 mutations)

Gaucher disease type I is a treatable lysosomal storage disease leading to hepatosplenomegaly, anemia and thrombocytopenia, and skeletal involvement including osteoporosis, osteonecrosis, lytic lesions and Erlenmeyer flask deformity. Gaucher disease type II presents in infancy with severe neurologic and visceral involvement but without skeletal manifestations. Type III presents as Type I but with the addition of neurologic involvement. Inheritance is autosomal recessive. Type I Gaucher is common in the Ashkenazi Jewish population, with a prevalence of 1/450 – 1/1000.

Molecular testing for these mutations will identify approximately 96% of alleles associated with Gaucher disease in the Ashkenazi Jewish population and approximately 70% of alleles in the non-Askenazi Jewish Caucasian population.

Test Name: Gaucher disease (11 mutations)
Test Code:
Test Description:
Analysis of the GBA gene for the following mutations:

Common mutations:
p.N37OS (c.1226A>G)
p.L444P (c.1448T>C)

Rare mutations:
p.V394L (c.1297G>T)
p.D409H (c.1342G>C)
p.D409V (c.1343A>T)
p.R463C (c.1504C>T)
p.R463H (c.1505G>A)
p.R496H (c.1604G>A)
del55bp (exon 9)
This test is used to provide additional information regarding diagnosed patients, provide carrier testing for at-risk family members or general population screening.
Related Tests: Gaucher (beta-glucosidase)  
This test may be used for diagnosing symptomatic individuals.

Gaucher disease, known mutation analysis  
This test is used for testing at-risk family members when family mutations are known, or for prenatal testing.

Gaucher disease, sequencing analysis  
This test may be used for genotyping confirmed cases or as a secondary confirmation of diagnosis. Sequencing is also used for carrier testing.

Clinical Links: Gaucher Disease GeneReview
Performed weekly
Turnaround Time:
2-3 weeks
PCR and sequencing
Reference Range:
Interpretive report provided
Consent Form:
Sample Requirements: Type
Whole blood: 1-3 mL in EDTA (purple top) or ACD (yellow top).
DNA: 5-10 ug extracted DNA

Do not spin. Refrigerate blood samples which will not be immediately shipped.

Room temperature via overnight shipping.
Samples Received:
Mon – Fri 8:00 am – 5:00 pm PST
Special Considerations:
Please e-mail Lab Client Services ( or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Lab Client Services ( or call at 206-987-2617 with any billing questions