mtDNA depletion and deletion

Test Information

Title
mtDNA depletion and deletion
Lab
Category
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
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Augmented exome backbone

Last Updated: November 14, 2025

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