Beta-Galactosidase, Leukocytes
Use
This test aids in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis. Beta-galactosidase is a lysosomal enzyme responsible for catalyzing the hydrolysis of gangliosides. Deficiency of this enzyme leads to significant clinical disorders including GM1 gangliosidosis, which can present as infantile, juvenile, or adult onset with varying symptoms, and Morquio syndrome B, which primarily involves skeletal dysplasia. Galactosialidosis also involves deficiency in this enzyme coupled with neuraminidase deficiency, resulting in neurological and skeletal anomalies.
Special Instructions
Not provided.
Limitations
This test is not suitable for carrier detection. It does not differentiate between GM1 gangliosidosis, Morquio B, and galactosialidosis on its own. Additional enzymatic or genetic testing may be required to fully interpret low beta-galactosidase activity levels and confirm a diagnosis. Measurement of beta-galactosidase enzyme activity is not the preferred diagnostic test for I-cell disease but can be a part of the testing strategy.
New York Approved
Methodology
Automated Analyzer (Fluorometric)
Biomarkers
LOINC Codes
- 24061-4 - B-Galactosidase WBC-cCnt
- 24061-4 - B-Galactosidase WBC-cCnt
- 18771-6 - Provider signing name
- 59462-2 - Clinical biochemist review
Result Turnaround Time
2-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
5 mL
Container
Yellow top (ACD solution B preferred, ACD solution A acceptable)
Collection Instructions
Send specimen in original tube. Do not aliquot.
Storage Instructions
For optimal isolation of leukocytes, it is recommended that the specimen arrive refrigerated within 6 days of collection.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |