Enzyme testing is reliable for diagnosing Fabry disease in males; it does not detect carriers. For carrier status, DNA analysis is recommended.
New York DOH Approval Status
Plain Red or Serum Separator Tube (SST).
Transfer 2 mL serum to an ARUP Standard Transport Tube. (Min: 0.2 mL)
Test is not performed at ARUP; separate specimens must be submitted when multiple tests are ordered.
Ambient: Unacceptable; Refrigerated: 24 hours; Frozen: 2 weeks
Performed by non-ARUP Laboratory
Results for this assay are not useful for carrier determination. Carriers usually have levels in the normal range.
|Component Test Code*||Component Chart Name||LOINC|
- Anderson Fabry Disease (Alpha Galactosidase, Serum)
- Ceramide Trihexosidase
- GLA Deficiency (Alpha Galactosidase, Serum)
- Soft AGAS (Alpha Galactosidase, Serum)
Mayo Clinic Laboratories