Fatty Acid Oxidation Diseases: Other
| Test Information | |
|---|---|
| Test Name | Fatty Acid Oxidation Diseases: Other |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Fatty Acid Oxidation Diseases |
| Gene/Platform/Region List | ACAA2, ACAD9, ACADL, ACADS, ECHS1, HADH |
| 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 | Acetyl-CoA transferase, Mitochondrial Complex I Deficiency, Nuclear Type 20, LCAD, SCAD, Enoyl-CoA Hydratase Deficiency, Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD). |