| Test Information |
| Test Name |
LCHAD/MTP deficiency |
| Lab (Location) |
Newborn Screening Ontario |
| Category |
Metabolic |
| Subcategory |
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 |
Diagnosis, Carrier / Cascade Testing |
| Test Methodology |
Sequencing |
| Diseases/Conditions |
long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD), Mitochondrial trifunctional protein deficiency (MTP)
|
