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Test Catalog

Test ID: FABMS    
Fabry Disease, Full Gene Analysis

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

Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha-Gal A enzyme activity


Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively

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

Polymerase chain reaction (PCR) amplification/DNA sequencing are utilized to test for the presence of a mutation in all 7 exons of the GLA gene.

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

Fabry Disease Full Gene Analysis

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

Alpha-Galactosidase A
Anderson-Fabry Disease
Cardiac Variant Fabry Disease
Renal Variant Fabry Disease