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
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Carnitine-Acylcarnitine Translocase Deficiency, CACT deficiency

Last Updated: November 26, 2025