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Test ID: IVD    
Isovaleryl-CoA Dehydrogenase (IVD) Mutation Analysis (A282V)

Secondary ID A test code used for billing and in test definitions created prior to November 2011

83644

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

Conditional

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

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 / 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

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

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

Isovaleric Acidemia (IVA)