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Diagnostic Services

Genetics Lab


Gaucher Disease Known Mutation 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.

Test Name: Gaucher disease, known mutation analysis
Test Code:
Test Description:
Analysis of the GBA gene for known familial mutations.
This test is used for carrier testing at-risk relatives and prenatal testing for confirmed carriers. Mutations must be known.
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, 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.

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.

Maternal Cell Contamination - DNA  
Maternal DNA is compared to fetal DNA to evaluate whether maternal cell contamination of the fetal sample has occurred.

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: 5ug extracted DNA
Prenatal Samples:2 T-25 flasks cultured cells (CVS or amnio)

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

Room temperature via overnight shipping. Ship cultured cells in appropriate media.
Samples Received:
Mon – Fri 8:00 am – 5:00 pm PST
Special Considerations:
For prenatal testing, maternal cell contamination testing is required (ordered separately).
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