Genetic Test Details | Ontario Health

mtDNA depletion and deletion

Test Information

Title: mtDNA depletion and deletion
Lab: Newborn Screening Ontario
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: Blood, DNA
Indications: Diagnosis, Carrier Cascade Testing
Test Methodology: Sequencing
Methodology Notes: Augmented exome backbone

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