164 nuclear genes involved in Mitochondrial disorders 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.
All exons of these 164 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 (BCM-MitomeNGSSM) will not detect genomic structural rearrangements (eg. deletions, duplications, and inversions), large insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing. Sequence analysis for each of the 162 nuclear genes responsible for Mitochondrial disorder by Massively Parallel Sequencing (BCM-MitomeNGSSM) can also be ordered separately: AARS2, ACAD9, ACADM, ACADVL, ACAT, ADCK3, AGL, ARG1, ATP5A1, ATP5E, ATPAF2, AUH, BCS1L, BTD, C10orf2, C12orf65, COQ2, COQ9, COX15, COX4I2, COX6B1, CPS1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FOXRED1, G6PC, GAA, GBE1, GFM1, GYS1, GYS2, HADHA, HADHB, HARS2, HLCS, ISCU, IVD, KARS, LARS2, LMBRD1, LPIN1, LRPPRC, MARS2, MCCC1, MCCC2, MGME1, MMAA, MMAB, MMACHC, MMADHC, MPI, MPV17, MRPL44, MRPS16, MTFMT, MTRR, MUT, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA8, NDUFAF2, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NUBPL, OPA1, OPA3, OTC, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, POLG, POLG2, PUS1, PYGL, PYGM, RARS2, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SDHB, SDHC, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A3, SLC25A4, SLC37A4, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TCN2, TFB1M, TIMM8A, TK2, TMEM70, TRMU, TSFM, TUFM, TYMP, UQCRB, UQCRQ, and YARS2.