Special Notes: |
All exons of these 21 genes are examined by NGS and Sanger Sequencing. 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, insertions, etc.), mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.
Sequence Analysis for the 21 genes in the Mitochondrial Respiratory Chain Complex I Deficiency Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: FOXRED1 (#2660), NDUFA1 (#3485), NDUFA11 (#2680), NDUFAF1 (#3940), NDUFAF2 (#3535), NDUFAF3 (#2690), NDUFAF4, NDUFAF5, NDUFS1 (#2700), NDUFS2 (#3930), NDUFS3 (#3570), NDUFS4 (#3560), NDUFS5 (#3250), NDUFS6 (#3565), NDUFS7 (#3605), NDUFS8 (#3845), NDUFV1 (#3590), NDUFV3 (#2705), and NUBPL (#2710).
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