Positive Findings in Clinical Mitochondrial Genome Testing by NGS

Baylor Genetics has established a robust platform to sequence the whole mitochondrial genome using Next Generation Sequencing (NGS) technology. Long-range PCR is used to amplify the mitochondrial DNA and exclude nuclear DNA. NGS is applied to sequence the samples in a high throughput manner. NGS data are processed to call single nucleotide variants (SNV) and large deletions in the mitochondrial genome. Variants can be confidently called at heteroplasmic levels as low as 1.5%. We retrospectively analyzed positive findings from cases tested consecutively but without selection based on clinical indications.