Genetic Test Details
Carnitine Uptake Deficiency
Test Information
- Title
-
Carnitine Uptake Deficiency
- Category
- Metabolic
- Sub Category
-
Fatty Acid Oxidation Diseases
- Gene/Platform/Region List
-
SLC22A5
- Test type
- Single Gene
- Samples Accepted
- Blood , DNA , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnosis , Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
carnitine transporter deficiency, carnitine uptake defect, carnitine uptake deficiency, CUD, CDSP
Last Updated: June 23, 2025