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