Ordering Recommendation

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 state approved.

Specimen Required

Patient Preparation
Collect

Serum separator tube (SST). Also acceptable: Plain red.

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

Physician name and phone number are required.

Stability

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

Methodology

Quantitative Fluorometry

Performed

Varies

Reported

4-8 days

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