Human Mitochondrial DNA (mtDNA) Sequencing Services

Overview

Mitochondrial DNA (mtDNA) is a small, circular genome found within the mitochondria that plays a critical role in cellular energy production. The human mitochondrial genome consists of approximately 16.6 kb and contains 37 essential genes involved in oxidative phosphorylation and other cellular functions.

Unlike nuclear DNA, mtDNA has a higher mutation rate and often exists as a mixture of normal and mutated genomes, a phenomenon known as heteroplasmy. Variations in mtDNA have been linked to numerous inherited and acquired disorders, making mitochondrial genome analysis an important tool in clinical, biomedical, and population genetics research.

At N2Jenomics Lab Pvt. Ltd., we offer comprehensive Human Mitochondrial DNA Sequencing using targeted enrichment strategies based on multiplex PCR or probe capture. Our workflow enables complete mitochondrial genome coverage directly from genomic DNA, eliminating the need for isolated mitochondrial DNA samples.

Key Advantages

• • Complete sequencing of the entire human mitochondrial genome

• • Multiplex PCR and probe-based enrichment options
• • Ultra-deep sequencing for sensitive variant detection
• • High genome coverage and sequencing accuracy
• • Compatible with standard genomic DNA samples
• • Fast turnaround with comprehensive bioinformatics support

Workflow

Our Human mtDNA Sequencing workflow includes:

• Sample quality assessment

• Mitochondrial DNA target enrichment

• Library preparation

• High-depth Illumina sequencing

• Bioinformatics analysis and variant identification

• Quality assessment and final project report

This streamlined workflow delivers reliable, high-quality mitochondrial genome data for disease research, population studies, and clinical genomics applications.

Service Specifications

	Sample Requirements Multiplex PCR sample: Genomic DNA≥ 200 ng, Minimum Quantity: 50 ng, Concentration≥ 5 ng/µL Human mtDNA Sequencing-probes: Genomic DNA≥ 500 ng, Minimum Quantity: 200 ng, Concentration≥ 10 ng/µL Note: Sample amounts are listed for reference only. For detailed information, please contact us with your customized requests.
	Sequencing Strategies Illumina platforms Capture efficiency: 60%~80%
	Bioinformatics Analysis Standard human mtDNA sequencing bioinformatics service includes Raw data QC Alignment to the mitochondrial reference genome Variant (SNP/indel) calling Annotation analysis Heteroplasmy and haplogroup analysis are available for request Note: Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Analysis Pipeline

Deliverables

• • The original sequencing data
• • Experimental results
• • Data analysis report
• • Details in Human Mitochondrial DNA (mtDNA) Sequencing for your writing (customization)

1. Does Whole Genome Sequencing (WGS) include mitochondrial DNA?

Yes. Whole Genome Sequencing captures both nuclear DNA and mitochondrial DNA (mtDNA) in a single experiment. Since cells contain multiple copies of mtDNA, WGS typically provides sufficient coverage for mitochondrial genome analysis alongside the nuclear genome.

2. Which technologies are used for mitochondrial DNA sequencing?

Human mtDNA can be sequenced using several technologies, including Sanger sequencing, Illumina Next-Generation Sequencing (NGS), Oxford Nanopore, and PacBio long-read sequencing. The choice of platform depends on the study objectives, required sequencing depth, and desired level of genomic resolution.