AGXTG - Overview: Alanine:Glyoxylate Aminotransferase (AGXT) Mutation Analysis (G170R), Blood

Test Catalog

Test Name

Test ID: AGXTG    
Alanine:Glyoxylate Aminotransferase (AGXT) Mutation Analysis (G170R), Blood

Useful For Suggests clinical disorders or settings where the test may be helpful

Identifying patients with the pyridoxine responsive form of primary hyperoxaluria type 1 (PH1)

 

Determining the presence of the Gly170Arg (G170R) mutation in the AGXT gene

 

Carrier testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Detects Gly170Arg mutation associated with assessment of pyridoxine responsiveness only.

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

Direct Mutation Analysis by Polymerase Chain Reaction (PCR)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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

Conditional

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

AGXT Mutation Analysis (G170R)

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

Hyperoxaluria
PH1 (Primary Hyperoxaluria Type 1)
AGXT