Medium Chain Acyl-Coenzyme Deficiency

Test Information

Titre
Medium Chain Acyl-Coenzyme Deficiency
Catégorie
Metabolic
Test Name (CMS Title)
Medium Chain Acyl-Coenzyme Deficiency (MCAD Deficiency)
Gene/Platform/Region List
ACADM
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Direct Exon Sequencing
Disease/Condition
Medium Chain Acyl-Coenzyme Deficiency (MCAD Deficiency)

Dernière Mise à Jour: 09 décembre 2025