Unit Code 88264:
Fabry Disease, Full Gene Analysis
Useful For
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
Method Name
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.)
Reporting Name
Fabry Disease Full Gene Analysis
Ordering Mnemonic
FABRYMS
FABMS
Aliases
Alpha-galactosidase A
Cardiac variant Fabry disease
Renal variant Fabry disease
External link
PDF document
Excel document
Word document