Gaucher Disease (GBA), Enzyme Activity in Leukocytes
Also known as: GBA ENZYME
Use
This test is used to diagnose Gaucher disease by measuring the beta-glucocerebrosidase (GBA) enzyme activity in leukocytes. Gaucher disease is a lysosomal storage disorder characterized by an accumulation of glucocerebroside due to deficiency of the GBA enzyme. The test helps identify individuals with Gaucher disease but is not indicated for carrier screening. Genetic evaluation is recommended for a comprehensive diagnosis.
Special Instructions
Not provided.
Limitations
This test cannot predict disease severity or carrier status for Gaucher disease. It does not evaluate enzyme activities that are deficient in other lysosomal storage disorders. Normal enzyme activity results do not exclude the presence of Gaucher disease and enzyme replacement therapy may normalize enzyme activity levels. The test was developed as a Laboratory Developed Test (LDT) and is not cleared or approved by the FDA.
Methodology
Other
Biomarkers
LOINC Codes
- 48767-8 - Annotation comment Imp
- 32540-7 - Glucosylceramidase WBC-cCnt
Result Turnaround Time
3-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Yellow (ACD), lavender (K2EDTA), lavender (K3EDTA), or green (sodium heparin)
Storage Instructions
Refrigerated
Causes for Rejection
Grossly hemolyzed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 3 days |
| Frozen | Unacceptable |
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