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
For optimal isolation of leukocytes, it is recommended the specimen arrives refrigerated within 6 days of collection. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible. Document informed consent for genetic testing on the request form or electronically if ordering from New York. Adequate disclosure about the nature of the test is necessary, especially since it does not confirm carrier status.
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
LOINC Codes
- 32540-7
- 32540-7
- 59462-2
- 18771-6
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 |