CACT deficiency

Test Information

Titre
CACT deficiency
Lab
Catégorie
Metabolic
Test Name (CMS Title)
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
SLC25A20
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-Acylcarnitine Translocase Deficiency, CACT deficiency

Dernière Mise à Jour: 09 décembre 2025