Genomics England
GMS Panels
Panels
Genes and Entities

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - Diagnostic (Version: )

Relevant disorders: Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing, R451, GT1105, TP378
Signed off date: 12 Aug 2026
Panel types: GMS Rare Disease, GMS signed-off
See this panel in PanelApp
1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
ACADM
BIALLELIC, autosomal or pseudoautosomalN/AN/A