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
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Disease/Condition
- Isovaleric acidemia, isovaleric acid CoA dehydrogenase deficiency, IVA
Dernière Mise à Jour: 18 juin 2025