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Rare Mitochondrial Disorders Gene Identification

Mitochondria are the energy-producing organelles of human cells and they carry their genomes. Our company is committed to providing a comprehensive analysis of the mitochondrial genome using next-generation sequencing (NGS) technology to detect rare mitochondrial disease-associated variants. Our reliable and flexible solutions for rare mitochondrial disorders gene identification can reveal potential therapeutic targets and accelerate your research into the molecular basis of rare mitochondrial disorders.

Introduction to Mitochondrial Disorders

Mitochondria are present in all nucleated cells and are capable of oxidative phosphorylation (OXPHOS) to generate adenosine triphosphate (ATP) or are essential in other cellular processes, including apoptosis and signaling pathways. There is no specific therapy for mitochondrial disorders, which is mainly symptomatic and pharmacological. However, the advent of NGS technology has advanced researchers to identify novel genetic defects affecting mitochondrial oxidative phosphorylation. To date, researchers have identified pathogenic mutations in more than 300 genes.

1-2-1-5 Rare Mitochondrial Disorders Gene Identification-1Fig.1 Overview of genetic testing strategies for mitochondrial disease individuals. (Mavraki, Eleni, et al., 2023)

Challenges in the Study of Mitochondrial Disorders

Mitochondrial diseases often involve multiple organs and systems, with neurological and muscular lesions being the main manifestations. Research related to rare mitochondrial disorders is difficult due to the phenotypic variability and genetic heterogeneity among individuals. The study on mitochondrial disorders faces the following challenges:

  • Differences in the number of mitochondria required for different tissues.
  • Interactions between nuclear and mitochondria encoded genes.
  • The presence of multiple mitochondrial genomes per cell.
  • The impact of different combinations of factors on disease presentation and severity.

Our Services

Dedicated to helping customers identify genes for rare mitochondrial disease variants, our company provides detection of rare mitochondrial point mutations and deletions, as well as analysis of mtDNA, nuclear DNA (nDNA) and D-loop hypervariable region to accelerate the research and identification of rare disease targets.

Whole Exome Sequencing

Providing a complete picture of the coding regions of the mitochondrial genome to analyze the mitochondrial regions where disease-causing variants are often found.

Whole Genome Sequencing

Providing the ability to fully sequence both the nuclear and mitochondrial genomes simultaneously to capture the complete spectrum of rare mitochondrial disorder pathogenic variants.

Targeted Gene Sequencing

Focusing on specific mitochondrial genes or regions. Utilizing sequencing panels based on a priori knowledge of rare mitochondrial disorder-associated variants.

Service Highlights

  • Professional team with many years of experience
  • Providing standardized upstream platform solutions
  • Competitive pricing and fast turnaround time
  • Cutting-edge technology and equipment
  • Advanced platforms and reliable analysis
  • High-quality one-stop service

Project Workflow

1-2-1-5 Rare Mitochondrial Disorders Gene Identification-2

Equipped with high-throughput sequencing platforms and powerful data analysis capabilities, our company provides customers with disease gene identification services for rare mitochondrial disorders. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.


  • Mavraki, Eleni, et al. "Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines." European Journal of Human Genetics 31.2 (2023): 148-163.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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