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