Genetic Test Details

CACT deficiency

Test Information

Title
CACT deficiency
Category
Metabolic
Sub Category
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
Diagnosis , Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Carnitine-Acylcarnitine Translocase Deficiency, CACT deficiency

Last Updated: June 23, 2025