BTSeq™ Mitochondrial DNA Service

Accurate detection of all mutation types in mitochondrial DNA


“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)

Sample Name Raw read Raw Base Total Read Filtered Ratio Mean Read
Target Size On target
read rartio
On target
base rartio
Uncovered 10x Coverage 50x Coverage
Sample 1 3,521,438 531,737,138 3,486,316 99.00% 141.82 16,569 90.78% 95.36% 0.00% 100.00% 100.00%
Sample 2 3,514,296 530,658,696 3,479,540 99.01% 142.69 16,569 91.39% 95.82% 0.00% 100.00% 100.00%
Sample 3 3,526,146 532,448,046 3,489,580 98.96% 139.41 16,569 90.12% 95.24% 0.00% 100.00% 100.00%
Sample 4 3,500,420 528,563,420 3,463,806 98.95% 141.72 16,569 90.85% 95.67% 0.00% 100.00% 100.00%

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.


“BTSeq™ mtDNA Service Workflow”

4-6 Business weeks

Sample Preparation

Requires 500ng of DNA Requires
ship on ice

Library construction

BTPrep™ for amplicon based

Hybridization probes for Target
enrichment-based method
(only Gene Add-on Service)


Illumina platform

Data analysis

Features &

Detection of all types of mitochondrial mutations
Enables analysis of entire region of mitochondrial
genome including D-loop hypervariable region
Enables analysis of the heteroplasmy
Celemics proprietary BI analysis pipeline
Detects mitochondrial mutations
accurately even with low VAF
Accurate mutation analysis for hypervariable
regions of mitochondria


  • Human diseases
  • Cancer research
  • Population genetics
  • Human identification
  • Biodiversity assessment
  • Forensic science