Skip to main content

Diagnostic Services

Genetics Lab


Gaucher Disease Enzyme Assay

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 (beta-glucosidase)
Test Code:
Test Description:
Measurement of beta-glucosidase in white cells or cultured skin fibroblasts.
Beta-glucosidase, glucocerebrosidase
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
Related Tests: Gaucher disease, known mutation analysis  
This test is used for carrier testing at-risk relatives and prenatal testing for confirmed carriers. Mutations must be known.

Gaucher disease, sequencing analysis  
This test is primarily used for genotyping confirmed cases or as a secondary confirmation of diagnosis. Sequencing can 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.

Clinical Links: Gaucher disease Gene Review
Performed weekly. Not available stat
Turnaround Time:
7-10 days
Fluorometric substrate assay
Reference Range:
Interpretive report provided
Consent Form:
Sample Requirements: Type
Whole blood: 10 mL ACD A or B (yellow) or heparin (green) tube. No gel separator tubes
Fibroblasts:2 T-25 flasks

Do not spin. Keep at room temperature

Room temperature via overnight shipping. Blood sample MUST be received within 24 hours of collection
Samples Received:
Mon – Fri 8:00 am – 5:00 pm PST. For Thursday shipping please arrange for AM courier delivery.
Special Considerations:
Please e-mail Client Services or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Client Services or call at 206-987-2617 with any billing questions