Genetic Test Details

mtDNA depletion and deletion

Test Information

Title
mtDNA depletion and deletion
Category
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

Last Updated: June 23, 2025