Genetic Test Details

CPT1 deficiency

Test Information

Titre
CPT1 deficiency
Catégorie
Metabolic
Sub Category
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
CPT1A
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 palmitoyltransferase I deficiency

Dernière Mise à Jour: 18 juin 2025