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22216 Alpha-Galactosidase, Serum (AGAS)

Alpha-Galactosidase, Serum (AGAS)
Test Code: MISC
Synonyms/Keywords
​Ref Lab code: 8784, a-Gal A, Alpha Galactosidase, Anderson Fabry Disease, Ceramide Trihexosidase, Fabry Disease,
Fabry's Disease, Galactosidase, Alpha, GLA Deficiency
Useful For
​Detection of hemizygous affected males
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
Serum​ Red Top Tube (RTT)​ Serum Separator Tube (SST)​ 2 mL​ 0.2 mL​ ​
Collection Processing Instructions
​Submit sample in a plastic vial.
Specimen Stability Information
Specimen Type Temperature Time
Serum​ Frozen (preferred)​ 14 days​
​ Refrigerated ​ 24 hours​
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
Mayo Medical Laboratories​
Tuesday​
8 days​
Fluorometric​
Reference Lab
Mayo Clinic Laboratories
Test Information
​Results from this assay may not reflect carrier status because of individual variation of alpha-galactosidase enzyme levels. Carriers usually have levels in the normal range.
Reference Range Information
​0.074-0.457 U/L
Interpretation
​Deficiency (<0.016 U/L) of alpha-galactosidase in properly submitted specimens is diagnostic for Fabry disease in males. If concerned about specimen integrity, please recheck using leukocyte testing (AGA/8785 Alpha-Galactosidase, Leukocytes).
 
Urine sediment analysis (CTSA/81979 Ceramide Trihexoside/Sulfatide Accumulation in Urine Sediment, Urine) for the accumulating trihexoside substrate is also recommended.
 
Carriers usually have alpha-galactosidase levels in the normal range.
Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
​82657 ​ ​ ​ ​
Synonyms/Keywords
​Ref Lab code: 8784, a-Gal A, Alpha Galactosidase, Anderson Fabry Disease, Ceramide Trihexosidase, Fabry Disease,
Fabry's Disease, Galactosidase, Alpha, GLA Deficiency
Ordering Applications
Ordering Application Description
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
Serum​ Red Top Tube (RTT)​ Serum Separator Tube (SST)​ 2 mL​ 0.2 mL​ ​
Collection Processing
​Submit sample in a plastic vial.
Specimen Stability Information
Specimen Type Temperature Time
Serum​ Frozen (preferred)​ 14 days​
​ Refrigerated ​ 24 hours​
Useful For
​Detection of hemizygous affected males
Reference Range Information
​0.074-0.457 U/L
Interpretation
​Deficiency (<0.016 U/L) of alpha-galactosidase in properly submitted specimens is diagnostic for Fabry disease in males. If concerned about specimen integrity, please recheck using leukocyte testing (AGA/8785 Alpha-Galactosidase, Leukocytes).
 
Urine sediment analysis (CTSA/81979 Ceramide Trihexoside/Sulfatide Accumulation in Urine Sediment, Urine) for the accumulating trihexoside substrate is also recommended.
 
Carriers usually have alpha-galactosidase levels in the normal range.
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
Mayo Medical Laboratories​
Tuesday​
8 days​
Fluorometric​
Reference Lab
Mayo Clinic Laboratories
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
​82657 ​ ​ ​ ​
For most current information refer to the Marshfield Laboratory online reference manual.