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Test ID: FABMS    
Fabry Disease, Full Gene Analysis

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

88264

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

Conditional

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.
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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