Genetic Test Details
CPT1 deficiency
Test Information
- Title
-
CPT1 deficiency
- Category
- Metabolic
- Sub Category
-
Fatty Acid Oxidation Diseases
- Gene/Platform/Region List
-
CPT1A
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA
- Indications
- Diagnosis, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Carnitine palmitoyltransferase I deficiency
Last Updated: November 26, 2025