mtDNA depletion and deletion
Test Information
- Titre
-
mtDNA depletion and deletion
- Catégorie
- Mitochondrial
- Test Name (CMS Title)
-
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
- Samples Accepted
- Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Methodology Notes
-
Augmented exome backbone
Dernière Mise à Jour: 04 juillet 2025
