| Test Information |
| Test Name |
Hydroxyglutaric Aciduria |
| Lab (Location) |
Newborn Screening Ontario |
| Category |
Mitochondrial |
| Subcategory |
Mitochondrial nuclear gene |
| Gene/Platform/Region List |
L2HGDH, D2HGDH, IDH2, SLC25A1 |
| 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 |
| Methodology Notes |
Augmented exome backbone |
| Diseases/Conditions |
Hydroxyglutaric Aciduria, Isocitrate Dehydrogenase Type 2 Deficiency, Combined Hydroxyglutaric Aciduria |
