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25207 Alpha-Galactosidase, Serum (AGAS)

Alpha-Galactosidase, Serum (AGAS)            
Test Code: AGASSO
Synonyms/Keywords
Ref Lab Code: ​Fabry's Disease, Anderson Gabry Disease, GLA Deficiency
Useful For
​Detection of hemizygous affected males.  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.
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
​Freeze immediately after aliquoting.  Refrigerated specimens are also acceptable up to 24 hours.  No freeze/thaw cycle is allowed.
Specimen Stability Information
Specimen Type Temperature Time
​Serum ​Freeze (preferred) ​14 days
​ ​Refrigerate ​24 hours
Rejection Criteria
Specimens other than serum
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Medical Laboratories ​Tuesday ​7 days
Fluorometric
Reference Lab
Mayo Clinic Laboratories
Test Information

Preferred screening specimen.

Forms:
Informed Consent for Genetic Testing

Reference Range Information
Performing Location Reference Range
​Mayo Medical Laboratories ​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.
 
See Fabry Disease Testing Algorithm below:
Fabry Disease Testing Algorithm
Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
82657​ ​ ​ ​ ​
Synonyms/Keywords
Ref Lab Code: ​Fabry's Disease, Anderson Gabry Disease, GLA Deficiency
Ordering Applications
Ordering Application Description
​Centricity ​Alpha-Galactosidase, S (AGAS)
​Cerner ​None
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
​Freeze immediately after aliquoting.  Refrigerated specimens are also acceptable up to 24 hours.  No freeze/thaw cycle is allowed.
Specimen Stability Information
Specimen Type Temperature Time
​Serum ​Freeze (preferred) ​14 days
​ ​Refrigerate ​24 hours
Rejection Criteria
Specimens other than serum
Useful For
​Detection of hemizygous affected males.  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
Performing Location Reference Range
​Mayo Medical Laboratories ​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.
 
See Fabry Disease Testing Algorithm below:
Fabry Disease Testing Algorithm
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Medical Laboratories ​Tuesday ​7 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.