Beta-Glucosidase, Leukocytes
Use
This test is used for the diagnosis of Gaucher disease, a lysosomal storage disorder caused by deficient activity of the acid beta-glucosidase enzyme. This deficiency leads to the accumulation of glucosylceramide, resulting in symptoms such as anemia, thrombocytopenia, bone disease, and hepatosplenomegaly. The test is particularly useful for patients with signs and symptoms suspicious for Gaucher disease and is included in the diagnostic workup following a positive newborn screening.
Special Instructions
Not provided.
Limitations
The test is intended for diagnostic purposes and is not reliable for carrier detection. Enzyme levels may appear normal in individuals receiving enzyme replacement therapy, which could lead to false-negative results. The test results might not reflect carrier status due to individual variations in enzyme levels. Grossly hemolyzed specimens are not acceptable for this test, which can lead to rejection of the specimen.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Beta-Glucosidase
Protein
LOINC Codes
- 32540-7 - Glucosylceramidase WBC-cCnt
- 32540-7 - Glucosylceramidase WBC-cCnt
- 59462-2 - Clinical biochemist review
- 18771-6 - Provider signing name
Result Turnaround Time
2-5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
4 mL
Container
Yellow top (ACD solution B) preferred; Yellow top (ACD solution A) or lavender top (EDTA) acceptable
Collection Instructions
Send specimen in whole blood original tube. Do not aliquot.
Storage Instructions
Refrigerate to stabilize leukocytes within 6 days of collection. Transport ambient if necessary but within time constraints.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |