“Accurate Analysis of Clinical Variability and Genetic Heterogeneity”

The mitochondria are involved in various cellular activities such as reactive oxygen species generation and apoptosis. Therefore, studying mutations present in mtDNA is important for research on human diseases such as diabetes, certain cancers, and aging. There are still some challenges, however, due to the characteristics of mtDNA that lead to genetic heterogeneity among individuals.

BTSeq™ Mitochondrial DNA Sequencing Service is designed to cover the entire 17 kb mtDNA region with newly developed NGS-based technology.

For BTSeq™ Mitochondrial mtDNA Sequencing, amplicons containing whole mtDNA sequences are generated and accurately analyzed using Celemics' proprietary BI analysis pipeline.

Result example of BTSeq™ Mitochondrial DNA Sequencing

In-house test result of mitochondrial DNA using BTSeq™ (Target Size : 16.6 kb)

In house testing results using BTSeq™ shows that 16.6 kb of the whole mitochondrial DNA region was successfully sequenced in all 4 test samples with 100% coverage for 50x
sequencing depth. A 100x coverage depth of more than 99.99% guarantees accurate, reliable sequencing results usable in future analysis.