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Test ID: AGAS    
Alpha-Galactosidase, Serum

Secondary ID A test code used for billing and in test definitions created prior to November 2011


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


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

Diagnosis of Fabry disease in males


Serum testing is the preferred screen for Fabry disease

Genetics Test Information Provides information that may help with selection of the correct 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 situation(s) 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

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

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