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HelpTest Code AGAS Alpha-Galactosidase, Serum
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Reporting Name
Alpha-Galactosidase, SSpecimen Type
SerumOrdering Guidance
If testing is needed for assessment of meat or meat-derived product allergy, order either ALGAL / Galactose-Alpha-1,3-Galactose (Alpha-Gal), IgE, Serum or APGAL / Galactose-Alpha-1,3-Galactose (Alpha-Gal) Mammalian Meat Allergy Profile, Serum.
Enzyme testing is unreliable for female patients as results may be within the normal values even in affected female patients; order GLA / Fabry Disease, GLA Gene Sequencing with Deletion/Duplication, Varies.
Additional Testing Requirements
Urine sediment analysis for the accumulating trihexoside substrate and measurement of globotriaosylsphingosine are recommended. Order both CTSU / Ceramide Trihexosides and Sulfatides, Random, Urine and LGB3S / Globotriaosylsphingosine, Serum in conjunction with this test.
Necessary Information
Sex of patient is required for interpretation of results.
Specimen Required
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 2 mL serum
Collection Instructions: Centrifuge and aliquot serum into a plastic vial.
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Serum | Frozen (preferred) | 14 days |
| Refrigerated | 24 hours |
Specimen Minimum Volume
Serum: 0.3 mL
Special Instructions
Day(s) Performed
Tuesday, Friday
Specimen Retention Time
1 monthReport Available
2 to 5 daysReference Values
0.074-0.457 U/L
Note: Results from this assay are not useful for female carrier determination. Carriers usually have levels in the normal range.
Useful For
Diagnosis of Fabry disease in male patients
Preferred screening test (serum) for Fabry disease
This test is not useful for patients undergoing a work up for a meat or meat-derived product allergy.
Testing Algorithm
The following algorithms are available:
-Fabry Disease: Newborn Screen-Positive Follow-up
-Fabry Disease Diagnostic Testing Algorithm
If the patient has abnormal newborn screening results for Fabry disease, refer to the appropriate ACMG Newborn Screening ACT Sheet.(1)
CPT Code Information
82657
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| AGAS | Alpha-Galactosidase, S | 1813-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 50590 | Alpha-Galactosidase,S | 1813-5 |
| 50584 | Interpretation | 59462-2 |
| 50586 | Reviewed By | 18771-6 |
Genetics Test Information
Serum is the preferred screening specimen for Fabry disease.
Enzyme testing is useful in identifying affected male patients.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602)
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.