Mitochondrial Whole Exome Sequencing

Creative Biogene's experienced team of scientists provides customers with efficient mitochondrial exome sequencing services and the most professional technical support. We provide exome targeting technology designed to produce comprehensive bioinformatics solutions by customizing different sequencing depths for common and rare mutations in mitochondrial genes.

The sequence and variation of exons and their adjacent regions of known genes in the mitochondrial genome can be obtained by combining mitochondrial full exome sequencing, exome enrichment, and second-generation sequencing. That is, liquid phase probes can be used to enrich exon region mtDNA sequences and carry out high-throughput sequencing to find mutations related to mitochondrial diseases. Compared with whole mitochondrial genome sequencing, mitochondrial full exon sequencing is more economical and efficient, and the data interpretation is more simple.

Figure 1. Rapid mitochondrial genome sequencing results. (Akesson L.S.,et al., 2019)

Creative Biogene provides major exome targeting technology and a comprehensive bioinformatics solution for common mitochondrial gene mutations and rare mutations customized to different sequencing depths. Creative Biogene experienced scientists provide you with the fastest project turnover and the most professional technical support.

Work Flow

Creative Biogene always provides you with customized services for mitochondrial research, and our one-stop research and analysis platform can meet all your research needs.

Technical characteristics

  • Flexible and fast product strategy: A variety of product portfolio strategies are suitable for different research purposes and help accurately in the field of scientific research. Support AIExome+: based on AIExomeV2, can flexibly increase the target region according to the research needs, and truly realize the specific customization of mitochondrial exons.
  • Full gene coverage: It covers more disease-related gene mutation information, which can effectively reduce the information omission of clinical mutation sites, and provides an effective method for identifying pathogenic mutations in mitochondrial diseases.
  • There are many kinds of testing: With the addition of CNV region detection, it is possible to detect CNV mutations in mitochondrial genomic regions larger than 250 kb.
  • Comprehensive and accurate coverage: Fully cover the whole exon region of mitochondria and accurately detect all SNP/InDel.
  • The accurate and fast analysis process: Standardized analysis process, carried in the cloud, simple and fast. Equipped with a new CNV analysis process, fully covering SNP/InDel/CNV. A more accurate phenotypic comparison analysis was carried out based on the all-exon database.

Our Advantages

  • Rich experience in mitochondrial exome sequencing
  • Outstanding research team
  • Unique integrated service for mitochondrial research
  • Reliable data and results
  • Rapid turnaround and cost-effective

Creative Biogene has the most professional team to serve customers around the world. If you have any questions about the content of this service, please feel free to contact us. We look forward to your contact.


  1. Akesson L.S., et al. “ Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing. ” Eur J Hum Genet, 2019, 27: 1821-1826.
  2. Sherrill J.D., et al. “ Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis. ” JCI Insight, 2018, 3(8): e99922.
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