Alpha-Galactosidase, Leukocytes
Use
This test is primarily used for the diagnosis of Fabry disease in male patients. It is useful in verifying abnormal serum alpha-galactosidase results in male patients who present with clinical symptoms suggestive of Fabry disease. Fabry disease is an X-linked lysosomal disorder caused by deficient activity of the enzyme alpha-galactosidase A, leading to glycosylsphingolipid deposition in the kidneys, heart, and brain. Early diagnosis and treatment with enzyme replacement therapy can significantly improve clinical outcomes.
Special Instructions
Not provided.
Limitations
The test is not useful for evaluating patients for meat allergies. Some individuals with pseudodeficiency allelic variants may show reduced enzyme activity with this assay. Carrier status cannot be determined as enzyme levels can appear within normal range even if a person is a carrier. Variants in the GLA gene can cause reduced enzyme activity, and more than 630 genetic alterations in the GLA gene have been identified. Results from this assay do not reflect carrier status and molecular genetic analysis is recommended for carrier detection.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Alpha-Galactosidase
Analyte
LOINC Codes
- 24049-9 - A-Galactosidase A WBC-cCnt
- 24049-9 - A-Galactosidase A 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, ACD solution A or Lavender top (EDTA) acceptable)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot. Collect Monday through Thursday only and not the day before a holiday.
Storage Instructions
Refrigerate specimen and ensure it is received within 6 days of collection.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |