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HelpTest Code LAB18259 Alpha-Galactosidase, Serum
Reporting Name
Alpha-Galactosidase, SUseful 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)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
SerumOrdering Guidance
If testing 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.
Carrier detection using enzyme levels is unreliable for female patients as results may be within the normal values. For testing carrier status, order FABRZ / Fabry Disease, Full Gene Analysis, 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.
Necessary Information
Sex of patient is required for interpretation of results.
Specimen Required
Collection Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 2 mL
Collection Instructions: Centrifuge and aliquot serum into a plastic vial.
Specimen Minimum Volume
0.3 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum | Frozen (preferred) | 14 days | |
| Refrigerated | 24 hours |
Special Instructions
Reference 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.
Day(s) Performed
Tuesday, Friday
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.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 |
Report Available
2 to 5 daysMethod Name
Fluorometric
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.
Call Laboratory Medicine resident at digital pager 314-747-1320 for approval before drawing the specimen.