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Unit Code 88264:
Fabry Disease, Full Gene Analysis

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

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 is used to test for the presence of a
mutation in all 7 exons of the GLA gene.
(PCR is utlized pursuant to a license agreement with
Roche Molecular Systems, Inc.)
See "Fabry Disease Testing Algorithm" in 
Special Instructions.

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

Fabry Disease Full Gene Analysis

Ordering Mnemonic An alternate Mayo code (to the Unit Code) for a test

FABRYMS
FABMS

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

Alpha-galactosidase A

Cardiac variant Fabry disease

Renal variant Fabry disease

Soft-FABMS