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GTR Home > Tests > Mitochondrial Diseases (mtDNA and 217 nuclear genes)

Methodology

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NextSeq 500

Test comments

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Testing includes sequencing of mitochondrial genome and the entire coding region of 217 nuclear genes. CNV analysis is included in the panel of nuclear genes.

Sanger sequencing of ACADS and ACADVL genes is available.

Del/dup analysis of DGUOK, MPV17, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK genes by MLPA.

Test development

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Not provided

Confirmation of results

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Potentially pathogenic/pathogenic findings are confirmed using another technology.

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