Genetic Test Details

Isobutyryl-CoA dehydrogenase deficiency

Test Information

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

Dernière Mise à Jour: 18 juin 2025