Human Mitochondrial DNA Sequencing

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Human Mitochondrial DNA Sequencing

Mitochondrial DNA (mtDNA) is a compact, double-stranded, circular molecule with a length of 16,569 bp. mtDNA typically contains about 37 genes, including 22 tRNAs and 2 rRNAs. The instability and variation of mtDNA is increasingly recognized as an important cause of a range of human diseases, such as Alzheimer's disease, Parkinson's disease, colorectal cancer, Kearns-Sayre syndrome, and so on. The ratio of normal to mutant mtDNAs within cells is an important factor that not only determines whether the mutations cause disease, but also relates to penetrance, the severity of the phenotype, and clinical presentation. Given the importance of environmental impact on Mitochondrial DNA (mtDNA) and its association with an array of human diseases, the investigation of a complete mtDNA sequence will contribute to clinical studies and develop new therapies for related diseases.

Here, we are proud to offer amplification-free, full-length sequencing of linearized mtDNA using PacBio SMRT technology and its advanced Sequel II system. We are able to provide a complete end-to-end human mtDNA sequencing solution to serve our clients' specific projects in an accurate, high-throughput, customized, and cost-effective manner.

Advantages of mtDNA Sequencing using PacBio SMRT Sequencing

  • Full-length mtDNA can be sequenced in one pass, with no assembly.
  • Full characterization of the mitochondrial genome, including allowing for complete variant phasing, identification of homoplastic mutation ( the 1000-10,000 copies of the mitochondrial genome present in a cell), and heteroplasmic mutations (only a subset of copies), as well as detection of epigenetic modifications.
  • Library construction requires fewer samples, with only 150 ng of input DNA available to construct mtDNA libraries for SMRT sequencing.

We Provide a Complete End-To-End Solution

Workflow of human mitochondrial DNA sequencing.-CD Genomics

Sample Requirements

  1. Human gDNA, contains both mtDNA and nuclear DNA.
  2. Cell pellets and various human tissues, such as brain tissue, liver tissue, tumor tissue, and other samples.

Long-Read Mitochondrial DNA Data Analysis

Long-read mitochondrial DNA data analysis.-CD Genomics

Advantage of Our Services

  • Optimized DNA isolation and library preparation protocols.
  • Increased read depth and tuned long amplicon analysis (LAA2) parameters.
  • High accuracy. Long-read sequencing significantly improves the accuracy of variant detection, especially the accuracy of heterogeneity detection.
  • Ability to analyze base modifications for epigenetic traits during sequencing.
  • Fast turnaround (3-4 weeks) and lowest price (note that prices depend on sample size and quantity, please contact us for a quotation).

CD Genomics is a leading global life sciences company, and we continue to expand our services and improve our existing resources to help scientists accelerate their research and support their careers. One of our goals is to generate reference-quality assemblies in diverse populations to better help scientists understand the complexity of human health and disease. For more information on how we can help you, please feel free to contact us.


  1. Alkanaq, A. N., et al. (2019). "Comparison of mitochondrial DNA variants detection using short-and long-read sequencing." Journal of Human Genetics, 64(11), 1107-1116.
  2. Weerts, M. J., et al. (2018). "Sensitive detection of mitochondrial DNA variants for analysis of mitochondrial DNA-enriched extracts from frozen tumor tissue." Scientific reports, 8(1), 1-12.
For Research Use Only. Not for use in diagnostic procedures.

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