Fifteen nuclear encoded genes involved in the biogenesis of the mitochondrial genome and the maintenance of mtDNA integrity are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation sequence technology. These genes are tabulated below and sequencing of subsets of the MitomeNGS panel may be ordered using the individual test codes listed.
All exons of these 15 genes are examined by NGS. Exonic variants and intronic variants within 20bp of the exon/intron boundary will be reported. This massively parallel sequence analysis (MitomeNGS®) will not detect genomic structural rearrangements (eg. deletions, duplications, inversions, etc.), large insertion mutations (e.g. ALU mediated insertion, etc), mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.
Sequence Analysis for the 15 genes in MtDNA Depletion/Integrity Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: C10orf2 (#3175), DGUOK (#3075), MGME1 (#5055), MPV17 (#3320), OPA1 (#3465), OPA3 (#3525), POLG (#3065), POLG2(#3380), RRM2B (#3420), SLC25A4 (#3170), SUCLA2 (#3375), SUCLG1 (#3390), SUCLG2 (#3960), TK2 (#3070) and TYMP (#3060).