Genetic Test Details

CACT deficiency

Test Information

Titre
CACT deficiency
Catégorie
Metabolic
Sub Category
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
SLC25A20
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-Acylcarnitine Translocase Deficiency, CACT deficiency

Dernière Mise à Jour: 18 juin 2025