CENTOGENE Mitochondrial Testing

Mitochondrial Disease Testing with CentoMito

Improve the lives of patients of all ages affected by mitochondrial diseases. Mitochondrial diseases are genetic conditions that occur when mitochondria fail to produce enough energy for the cell.

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Establishing a Diagnosis As Soon as Possible

There is no cure for mitochondrial diseases, but several different treatment options and approaches can help reduce symptoms or delay or prevent the progression of the disease. CentoMito is CENTOGENE's targeted genetic testing for the diagnosis of mitochondrial diseases.

By targeting nuclear encoded genes as well as mitochondrial encoded genes, this panel provides a comprehensive test in patients with a demonstrated mitochondrial deficiency on biopsy material or a suspicion of mitochondrial disorders based on the patient’s symptoms.

What Are Mitochondrial Diseases?

Mitochondrial diseases are genetic conditions that occur when mitochondria fail to produce enough energy for the cell. Genetic mutations in the mitochondrial genome, or nuclear genes, encoding proteins that maintain the function of the mitochondria, causing symptoms mainly in the organs where energy consumption is high. These organs are eye, liver, kidney, pancreas, blood, inner ear, colon, skeletal muscle, heart and brain.

Mitochondrial diseases are estimated to affect 1 in 4,000 people.


Distinctive product offering centered around high-quality genetic testing

Strong presence in and access to countries with a high prevalence of rare diseases

CentoCard provides easy logistics for central testing

Rare disease-centric Bio/Databank generates best-in-class medical insights

Deep expertise in rare, metabolic, and neurodegenerative diseases, as well as multiomics enables better diagnostics

What Tests for The Diagnosis of Mitochondrial Diseases Are Offered by CENTOGENE?

CENTOGENE offers two panels for the Diagnosis of mitochondrial diseases:

CentoMito Comprehensive

Covers the entire mitochondrial genome (CentoMito Genome) along with nuclear genes related to mitochondrial diseases (≥99.0% targeted regions covered at ≥20x). ≥ 15.0 % mitochondrial heteroplasmy can be confidently detected; CNV analysis included

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CentoMito Genome

Covers all mitochondrial encoded genes (≥97.0% targeted regions covered at ≥200x). Includes NGS-based copy number variation analysis. ≥ 15.0 % mitochondrial heteroplasmy can be confidently detected; CNV analysis included

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Visit Our Online Ordering Portal

CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

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Who Should Get Tested for Mitochondrial Diseases?

  • Individuals with clinical symptoms characteristic of a specific mitochondrial disorder such as progressive external ophthalmoplegia, muscle biopsy findings, stroke-like episodes, etc.
  • Individuals with any progressive multisystem disorder of unknown etiology
  • Individuals with multiple complex neurologic features or a single neurological symptom with other system involvement
  • Children presenting with lactic acidosis
  • Presymptomatic testing for at-risk family members

Test Results

  • Positive result – indicates that a previously understood disease-causing mutation was identified. This result can help the physician to assess the risk of experiencing certain symptoms and indicate the best way how to treat the disease. Positive result may also identify family members at risk of having the mutation, and carrier testing may be recommended.
  • Negative result – does not necessarily rule out a mitochondrial disorder, and the patient should be managed according to clinical symptoms. Possible reasons for a negative result could be that the patient may have a mutation in a gene not covered by the testing panel, or it could be a mutation which is not detectable with the performed test, or the patient does not have a mitochondrial disorder.
  • Variant of unknown clinical significance (VUS) – indicates that we have identified a change in the DNA, but this change is not known to be associated with a disorder. To clarify the clinical significance of the variant, testing other family members may be helpful.


Product Sheets

CENTOGENE CentoMito Brochure Physicians English PDF

CentoMito Brochure

Mitochondrial Disease Testing

Scientific Publications

Increasing Disease Insights by Describing Large Patient Cohorts

A deep understanding of a specific rare disorder is usually hampered by the small size of available patient cohorts. CENTOGENE was able to leverage its Biodatabank to overcome this obstacle for […]


Related Webinars

CentoLCV – The New Standard for Detecting Chromosomal Imbalances

Watch Dr. Peter Bauer, MD, Chief Genomic Officer at CENTOGENE, as he discusses CentoLCV, our comprehensive Large Copy number Variation (CNV) analysis, and why it is the new standard for establishing […]


Genetics in Parkinson’s Disease – Lessons from a Global Cohort

Join our next webinar discussing Parkinson’s Disease, one of the most common neurodegenerative disorders manifested by a broad spectrum of motor and non-motor features. Prof. Peter Bauer, MD, […]

4 Dec, 2019

Niemann-Pick Type C Disease Often Overlooked: Fast & Efficient Screening Programs

Discover how CENTOGENE’s fast and efficient screening program for NP-C can enable diagnosis, prediction and therapy monitoring for your patients.


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