Test Catalog

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

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

Confirmation of clinical or biochemical diagnosis of isovaleric acidemia

 

Providing prognostic information for patients with isovaleric acidemia

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

This test is used to detect the A282V mutation, also reported as A314V, within exon 9 of the IVD gene; it 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).

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Newborn Screening Follow-up for Isolated C5 Acylcarnitine Elevations (also applies to any plasma or serum C5 acylcarnitine elevations) in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

Polymerase Chain Reaction (PCR)-based assay (restriction enzyme digest)

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

IVD Mutation Analysis (A282V)

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

Isovaleric Acidemia (IVA)
IVD
A314V