Test Catalog

Test ID: AGAS    
Alpha-Galactosidase, Serum

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of Fabry disease in males


Preferred screening test (serum) for Fabry disease

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Serum is the preferred screening specimen.


Enzyme testing is useful in identifying affected males.


Enzyme levels for carriers are usually within the normal range. Order FABRZ / Fabry Disease, Full Gene Analysis for carrier testing.


Fabry disease is caused by deficient activity of the enzyme alpha-galactosidase A and results in damage to multiple organs including the kidney, heart, and brain.


This test is used for the diagnosis of Fabry disease in males only.


Treatment with enzyme replacement therapy is available for individuals with Fabry disease.


This test is not suitable for carrier detection in females. It is recommended that molecular testing (FABRZ / Fabry Disease, Full Gene Analysis) be performed for diagnosis in females.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

The following algorithms are available in Special Instructions:

-Fabry Disease: Newborn Screen-Positive Follow-up

-Fabry Disease Testing Algorithm


For more information, see Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test


NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Alpha-Galactosidase, S

Aliases Lists additional common names for a test, as an aid in searching

a-Gal A
Alpha Galactosidase
Anderson Fabry Disease
Ceramide Trihexosidase
Fabry Disease
Fabry's Disease
Galactosidase, Alpha
GLA Deficiency
Anderson-Fabry Disease