Ordering Recommendation

Enzyme testing is reliable for diagnosing Fabry disease in males; it does not detect carriers. For carrier status, DNA analysis is recommended.

Mnemonic
A GALACTO
Methodology

Quantitative Fluorometry

Performed

Varies

Reported

8-18 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Plain Red or Serum Separator Tube (SST).

Specimen Preparation

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.

Storage/Transport Temperature

CRITICAL FROZEN.

Unacceptable Conditions

Thawed specimens.

Remarks
Stability

Ambient: Unacceptable; Refrigerated: 24 hours; Frozen: 2 weeks

Reference Interval

By report

Interpretive Data



Compliance Category

Performed by non-ARUP Laboratory

Note

Results for this assay are not useful for carrier determination. Carriers usually have levels in the normal range.

Hotline History
N/A
CPT Codes

82657

Components
Component Test Code* Component Chart Name LOINC
2003206 Alpha-Galactosidase, Interpretation 59462-2
2003211 Alpha-Galactosidase, Review 59465-5
2003212 Alpha-Galactosidase, Serum 1813-5
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Anderson Fabry Disease (Alpha Galactosidase, Serum)
  • Ceramide Trihexosidase
  • GLA Deficiency (Alpha Galactosidase, Serum)
  • Soft AGAS (Alpha Galactosidase, Serum)
Alpha-Galactosidase, Serum

Mayo Clinic Laboratories