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
This test is New York DOH approved.
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.
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- Anderson Fabry Disease (Alpha Galactosidase, Serum)
- Ceramide Trihexosidase
- GLA Deficiency (Alpha Galactosidase, Serum)
- Soft AGAS (Alpha Galactosidase, Serum)
Mayo Clinic Laboratories