Genetic Test Details

MCAD deficiency

Test Information

Title
MCAD deficiency
Category
Metabolic
Sub Category
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
ACADM
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
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Last Updated: June 23, 2025