Genetic Test Details

Isobutyryl-CoA dehydrogenase deficiency

Test Information

Title
Isobutyryl-CoA dehydrogenase deficiency
Category
Metabolic
Sub Category
Organic Acid Disorders
Gene/Platform/Region List
ACAD8
Test type
Single Gene
Samples Accepted
Blood , DNA , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis , Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Isobutyryl-CoA dehydrogenase deficiency (IBD Deficiency)

Last Updated: June 23, 2025