Alpha-Galactosidase, Serum
Also known as: A GALACTO
Use
Enzyme testing for alpha-galactosidase is a reliable method for diagnosing Fabry disease in males; however, it is not effective for identifying carrier status. For carrier determination, particularly in females, DNA analysis is recommended. The measurement of alpha-galactosidase activity can indicate enzyme deficiency, which is a hallmark of Fabry disease, aiding in diagnosis and management of the condition.
Special Instructions
Patient's sex and physician's contact information are required for result interpretation. Informed consent is necessary for New York State clients, and it should be documented that it is on file either in the request form or electronic order.
Limitations
This assay is not suitable for determining carrier status as carriers often exhibit normal enzyme levels. Molecular genetic testing of the GLA gene is advised for identifying female carriers.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 59462-2
- 18771-6
- 1813-5
Result Turnaround Time
4-8 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
2 mL
Minimum Volume
0.3 mL
Container
ARUP standard transport tube
Collection Instructions
Collect using a serum separator tube (SST). Plain red tubes are also acceptable. Transfer serum to ARUP standard transport tube.
Storage Instructions
CRITICAL FROZEN. Keep specimens frozen and avoid thawing.
Causes for Rejection
Thawed specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 24 hours |
| Frozen | 2 weeks |