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Diagnostic Services

Genetics Lab


Gaucher Disease Sequencing Analysis

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.

Sequencing of all 11 exons and their flanking regions will detect greater than 98% of mutations in individuals affected with Gaucher disease.

Test Name: Gaucher disease, sequencing analysis
Test Code:
Test Description:
DNA sequencing of all 11 exons and flanking regions of the GBA gene.
This test is primarily used for genotyping confirmed cases or as a secondary confirmation of diagnosis. Sequencing can also used for carrier testing.
Related Tests: Gaucher (beta-glucosidase)  
This test is used to diagnose Gaucher disease in a symptomatic individual. This test is NOT appropriate for determining carrier status or for prenatal diagnosis.

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

Gaucher disease (11 mutations)  
This test is used to provide additional information regarding diagnosed patients, provide carrier testing for at-risk family members or general population screening.

Clinical Links: Gaucher Disease Gene Review
Performed weekly. Not available stat
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- 10ug 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:
This test is not for The Gaucher Registry. If your patient is enrolled in the Gaucher Registry and you’d like to arrange sequencing, click here.
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