Genetic Test Details
LCHAD/MTP deficiency
Test Information
- Title
-
LCHAD/MTP deficiency
- Category
- Metabolic
- Sub Category
-
Fatty Acid Oxidation Diseases
- Gene/Platform/Region List
-
HADHA, HADHB
- Test type
- Gene Panel
- Samples Accepted
- Blood , DNA , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnosis , Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD), Mitochondrial trifunctional protein deficiency (MTP)
Last Updated: June 23, 2025