Genetic Test Details
LCHAD/MTP deficiency
Test Information
- Titre
- LCHAD/MTP deficiency
- Catégorie
- Metabolic
- Sub Category
- Fatty Acid Oxidation Diseases
- Gene/Platform/Region List
- HADHA, HADHB
- Test type
- Gene Panel
- Samples Accepted
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Disease/Condition
- long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD), Mitochondrial trifunctional protein deficiency (MTP)
Dernière Mise à Jour: 18 juin 2025