Test Catalog

Test ID: AGABS    
Alpha-Galactosidase, Blood Spot

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

Diagnosis of Fabry disease in male patients using blood spot specimens

 

Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease

 

Follow-up to an abnormal newborn screen 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

This test provides diagnostic testing for males with positive newborn screen results, positive family history, or clinical signs and symptoms suspicious for Fabry disease.

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 Testing Algorithm

-Fabry Disease: Newborn Screen-Positive Follow-up

 

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

Fluorometric Enzyme Assay

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

Yes

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

Alpha-Galactosidase, BS

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

a-galactosidase A
Alpha Galactosidase
Anderson-Fabry Disease
Ceramide trihexosidase
Fabry Disease
Fabry's Disease
Galactosidase, Alpha
GLA Deficiency