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Unit Code 88264:
Fabry Disease, Full Gene Analysis

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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


Key