mtDNA depletion and deletion
| Test Information | |
|---|---|
| Test Name | mtDNA depletion and deletion |
| Lab (Location) | Newborn Screening Ontario |
| Category | Mitochondrial |
| Subcategory | Mitochondrial nuclear gene |
| Gene/Platform/Region List | AGK, DGUOK, DNA2, FBXL4, GFER, MFN2, MGME1, MPV17, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK, TYMP |
| 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 |