Genetic Test Details
Isovaleric acidemia
Test Information
- Titre
-
Isovaleric acidemia
- Catégorie
- 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
- Diagnostics , Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Isovaleric acidemia, isovaleric acid CoA dehydrogenase deficiency, IVA
Dernière Mise à Jour: 18 juin 2025