Genetic Test Details

Isovaleric acidemia

Test Information

Title
Isovaleric acidemia
Category
Metabolic
Sub Category
Organic Acid Disorders
Gene/Platform/Region List
ACADSB, FLAD1, IVD
Test type
Gene Panel
Samples Accepted
Blood , DNA , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis , Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Isovaleric acidemia, isovaleric acid CoA dehydrogenase deficiency, IVA

Last Updated: June 23, 2025