Mitochondrial Disease Testing
Genetic testing is one of the fastest ways to diagnose mitochondrial diseases. A diagnosis enables affected individuals to find the right ways to live with their disease.
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What causes mitochondrial diseases?
Mitochondrial diseases are genetic conditions that occur when mitochondria, small components of our human cells which generate energy, fail to produce enough energy for the cell.
There are a huge number of genes in which variation can occur to produce a mitochondrial disease; this typically makes symptoms difficult to identify and the disease itself difficult to diagnose definitively. In addition, the causes of mitochondrial diseases may not manifest themselves until adulthood.
How does genetic testing help?
It can be hard to establish a clinical diagnosis for a mitochondrial disease; this can often result in a history of delayed diagnosis, misdiagnosis and mistreatment of the patient. There are no cures for mitochondrial diseases, but treatment can help reduce symptoms, delay or even prevent the progression of the disease.
If you receive a positive test for one of the mitochondrial diseases, then you and your doctor can proceed with confidence to decide the best disease management strategy.
How is it tested?
With a mitochondrial disease, it is vital to establish diagnosis as soon as possible and this can only be done with genetic testing. A simple blood sample provides enough DNA to analyze the large number of genes implicated in mitochondrial diseases.
Multiple genes are tested at the same time, leading to a quick and thorough result which is then interpreted and relayed to you by your doctor. As well as the genes affected, the level of severity is also carefully assessed.
What are Mitochondrial Diseases?
Mitochondrial diseases are caused by dysfunction of the mitochondria. The genetic code in the mitochondrial genome encode the proteins responsible for the growth and maintenance . If there is an error or mutations in the gene, the mitochondria will not be able to work properly. The results are developmental, neurological, muscular, and cognitive disabilities with symptoms including:
- Neurological problems
- Hearing loss and/or visual problems
- Muscle weakness, loss of movement control
- Exercise intolerance
- Heart muscle weakness
- Liver failure, kidney diseases
- Drooping eyelids
- Recurrent vomiting
- Gastrointestinal reflux
- Delayed gastric emptying
- Chronic diarrhea or constipation
- Stroke-like episodes
What a positive result means
A positive result indicates that a known mitochondrial disease-causing mutation has been identified. This may be a relief to you after many years of ill health without being able to pinpoint exactly the cause. The result will help your doctor assess what symptoms you are likely to encounter throughout your life and indicate the best way forward for your doctor to manage the disease.
A positive result may also identify family members at risk for having the mutation, and carrier testing may be recommended.
Consult your doctor
The information obtained from genetic testing can have a profound impact on your life. Prior to any genetic testing, we strongly recommend that you seek genetic counseling to understand more about which of the following options might be beneficial for you and your family members. Genetic counseling is also recommended to help you understand your genetic test results and their implications for other family members.
At CENTOGENE, we only accept genetic tests ordered by a doctor on your behalf, to ensure that you have access to full support and backup to make informed decisions about your future healthcare.