Very Long Chain acyl-CoA dehydrogenase Deficiency

Test Information

Titre
Very Long Chain acyl-CoA dehydrogenase Deficiency
Catégorie
Metabolic
Test Name (CMS Title)
Very Long Chain acyl-CoA dehydrogenase Deficiency
Gene/Platform/Region List
ACADVL
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Direct Exon Sequencing
Disease/Condition
Very Long Chain acyl-CoA dehydrogenase Deficiency (VLCAD Deficiency)

Dernière Mise à Jour: 09 décembre 2025