Genetic Test Details
CACT deficiency
Test Information
- Titre
-
CACT deficiency
- Catégorie
- Metabolic
- Sub Category
-
Fatty Acid Oxidation Diseases
- Gene/Platform/Region List
-
SLC25A20
- 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
-
Carnitine-Acylcarnitine Translocase Deficiency, CACT deficiency
Dernière Mise à Jour: 18 juin 2025