Mitochondrial DNA (mtDNA) Sequencing Services

N2Jenomics Lab Pvt. Ltd. provides reliable and cost-effective Mitochondrial DNA (mtDNA) Sequencing services using both Illumina and PacBio sequencing platforms. Our solutions deliver high-quality data for disease research, population genetics, evolutionary studies, and biodiversity analysis.

What is Mitochondrial DNA (mtDNA) Sequencing?

Mitochondrial DNA (mtDNA) sequencing analyzes the complete mitochondrial genome to identify genetic variants associated with inherited disorders, aging, cancer, neurological diseases, and metabolic conditions. It is also widely used in evolutionary biology, population genetics, and species identification.

Using advanced sequencing technologies, researchers can accurately detect heteroplasmy, characterize mitochondrial variants, and gain valuable insights into mitochondrial function and disease mechanisms.

Our mtDNA Sequencing Platforms

We offer flexible sequencing solutions tailored to different research needs:

• • Illumina Sequencing – High-depth, accurate short-read sequencing for comprehensive mtDNA variant analysis.

• • PacBio Long-Read Sequencing – Full-length mtDNA sequencing with amplification-free workflows, enabling variant phasing, heteroplasmy detection, and epigenetic analysis.

Key Features

• • Complete mitochondrial genome coverage
• • High sequencing accuracy and deep coverage
• • Sensitive detection of low-frequency heteroplasmic variants
• • Advanced bioinformatics analysis and variant annotation
• • Experienced genomics and bioinformatics experts

Applications

• • Mitochondrial disease research
• • Human genetics and precision medicine
• • Cancer and neurodegenerative disease studies
• • Population genetics and ancestry analysis
• • Evolutionary and conservation biology
• • Species identification and biodiversity research
• • Environmental and toxicology studies

mtDNA Sequencing Workflow

Service Specifications

	Sample requirements Genomic DNA ≥ 0.4 µg, Concentration ≥ 20 ng/µl OD260/280=1.8-2.0
	Sequencing Illumina Platform: Library size: 180-220 bp, PE 150, 1G PacBio Platform: Library size: 2 K, 1G MGI DNBSEQ-T7/DNBSEQ-G400
	Data Analysis Data quality control Reference Genome mapping SNP/InDel detection, annotation, statistics mtDNA heteroplasmy detection, annotation, statistics mtDNA cricoc map …and more

Analysis Pipeline

Deliverables

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

1. Why is mtDNA preferred over autosomal DNA in certain studies?

Mitochondrial DNA has a high mutation rate, exists in multiple copies per cell, and does not undergo recombination. These characteristics make it highly suitable for studying inherited disorders, evolutionary relationships, population genetics, and species identification.

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

Yes. Whole Genome Sequencing (WGS) generally includes both nuclear DNA and mitochondrial DNA. Depending on the sequencing platform and analysis workflow, mtDNA variants can be identified alongside genomic variants for comprehensive genetic analysis.

3. What are the main challenges in mtDNA sequencing?

Common challenges include detecting low-frequency heteroplasmic variants, distinguishing genuine mtDNA from nuclear mitochondrial DNA segments (NUMTs), ensuring sufficient sequencing depth, and accurately analyzing highly variable mitochondrial genomes.

4. What sample types are required for human mtDNA sequencing?

Human mtDNA sequencing can be performed using genomic DNA extracted from blood, saliva, tissue, or other biological samples. Since mitochondrial DNA is naturally present within cells, separate isolation of mtDNA is generally not required for targeted capture or sequencing workflows.