LCHAD/MTP deficiency
Test Information
- Titre
-
LCHAD/MTP deficiency
- Catégorie
- Metabolic
- Test Name (CMS Title)
-
Fatty Acid Oxidation Diseases
- Gene/Platform/Region List
-
HADHA, HADHB
- Test type
- Samples Accepted
- Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD), Mitochondrial trifunctional protein deficiency (MTP)
Dernière Mise à Jour: 09 décembre 2025