| PEO Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
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| Test Information: |
Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The common clinical symptoms are weakness of the eye muscles causing ptosis and ophthalmoplegia. Some affected individuals may also have symptoms of muscle weakness. Progressive external ophthalmoplegia (PEO-NGS) panel is appropriate for patients suspected of having one of these clinical symptoms and/or mtDNA multiple deletions. |
| Test Details |
| Test Code: |
2140 |
| Special Notes: |
Ten 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 10 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, 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 10 genes responsible for progressive external ophthalmoplegia (PEO) by Massively Parallel Sequencing (MitomeNGS) can also be ordered separately: C10orf2 (#3175), MGME1 (#5055), OPA1 (#3465), OPA3 (#3525), POLG (#3065), POLG2(#3380), RRM2B (#3420), SLC25A4 (#3170), SPG7(#5335) and TK2 (#3070).
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| Technical Information |
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| Methodology: |
Targeted Capture followed by Massively Parallel Sequencing |
| Gene Name: |
C10orf2 (TWINKLE), MGME1, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A4(ANT1), SPG7, TK2 |
| Test Type: |
Next Generation Sequencing |
