Alpha-Galactosidase, Serum
Use
Diagnosis of Fabry disease in male patients. Preferred screening test (serum) for Fabry disease. Not useful for patients undergoing work-up for meat or meat-derived product allergy. Enzyme testing is useful in identifying affected male patients, but unreliable in females; molecular genetic testing of GLA gene is recommended for females.
Special Instructions
Use ACMG newborn screen-positive follow‑up or diagnostic algorithms when applicable. Sex of patient is required for interpretation. Informed consent required for New York clients. Several forms available including Biochemical Genetics Test Request and patient information materials.
Limitations
Not useful for meat or meat‑derived product allergy evaluation. Female carriers often have normal levels; enzyme testing is unreliable for diagnosis in female patients. Individuals with pseudodeficiency allelic variants can show reduced enzyme activity, risking false‑positive interpretation.
New York Approved
Methodology
Other (Fluorometric)
Biomarkers
LOINC Codes
- 1813-5
- 1813-5
- 59462-2
- 18771-6
Result Turnaround Time
2-5 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
2 mL
Minimum Volume
0.3 mL
Container
Serum gel (preferred); Red top (acceptable)
Collection Instructions
Centrifuge and aliquot serum into a plastic vial.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 24 hours |
| Frozen | 14 days |