FABRZ - Overview: Fabry Disease, Full Gene Analysis

Test Catalog

Test Name

Test ID: FABRZ    
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

Testing Algorithm Delineates situations 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

 

For more information, see Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A in Special Instructions.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Amplification/DNA sequencing

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

Yes

Reporting Name A shorter or 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
FABMS
GLA