Isovaleryl-CoA Dehydrogenase (IVD) Mutation Analysis (A282V)
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Confirmation of clinical and/or biochemical diagnosis of isovaleric acidemia
Providing prognostic information
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
This test includes only the A282V mutation. This mutation may confer a milder clinical phenotype. This test is recommended only after appropriate biochemical testing (OAU/80619 Organic Acids Screen, Urine).
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
Polymerase Chain Reaction (PCR)-based assay (restriction enzyme digest) is used to detect the A282V mutation within exon 9 of the IVD gene.
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
IVD Mutation Analysis (A282V)
Isovaleric Acidemia (IVA)