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


