Genetic Test Details

mtDNA depletion and deletion

Test Information

Titre
mtDNA depletion and deletion
Catégorie
Mitochondrial
Sub Category
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
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing
Methodology Notes
Augmented exome backbone

Dernière Mise à Jour: 18 juin 2025