Laboratory: Clinical Biochemistry  (BIOCHEMICAL GENETICS)
Test Name:
ALPHA-GALACTOSIDASE - (S)
Test Code: AGAB
Clinical Information:
Test Indications: Synonym: Anderson-Fabry, Fabry, Lysosomal Enzymes.
 
This test is for the investigation of Fabry disease in MALE PATIENTS ONLY based on clinical presentation (X-linked disease).  Test is not useful in female patients.
 
It has been reported that 30% of heterozygous female patients with Fabry showed normal enzyme activity.
 
Individuals with pseudodeficiency allelic variants can show reduced alpha-galactosidase A enzyme activity with this assay.
 
This test is not useful for carrier determination.
 
Restriction: This test is considered specialty testing and can only be ordered by neurologists, nephrologists, cardiologists and geneticists; this test will be cancelled if sufficient clinical justification is not provided.


Test Approval Requirements: neurologists, nephrologists, cardiologists and geneticists.  Only male patients will be tested. 


Clinical Practice Change - Fabry Protocol 

Collection Devices:
Specimen Required:
Serum: 2.0 mL
Pediatric Serum: 0.2 mL
Referral:

Shipping & Storage: Store and ship frozen to HSC, will be rejected if thawed during transport. Send the requisition (or a clear copy) with the sample. 
 
Stability:
Frozen 14 days
Refrigerated: 24 hours  
Requisition:
Reference Values:
0.074-0.457 U/L
Availability:
Within 3 Weeks
See Also:
More Information:
If you have any questions, please communicate with the Metabolic Lab (HSC): 204-787-4530
 
Store and ship frozen to: Mayo
Test ID:AGAS
CPT code: 82657