Genetic Test Details
Carnitine Uptake Deficiency
Test Information
- Titre
- Carnitine Uptake Deficiency
- Catégorie
- Metabolic
- Sub Category
- Fatty Acid Oxidation Diseases
- Gene/Platform/Region List
- SLC22A5
- 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
- carnitine transporter deficiency, carnitine uptake defect, carnitine uptake deficiency, CUD, CDSP
Dernière Mise à Jour: 18 juin 2025