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