Isobutyryl-CoA dehydrogenase deficiency

Test Information

Titre
Isobutyryl-CoA dehydrogenase deficiency
Lab
Catégorie
Metabolic
Test Name (CMS Title)
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
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Isobutyryl-CoA dehydrogenase deficiency (IBD Deficiency)

Dernière Mise à Jour: 09 décembre 2025