Mitochondrial Diseases – The Causes, Diagnostic Strategy, and Clinical Utility of Genetic Testing

Mitochondriopathies play an important role in neuropediatrics as a cause of severe early childhood encephalopathies, but can also be the cause of rare diseases and symptoms in adult neurology. Up to now, especially in cases of suspected mitochondrial encephalopathy, the analysis of a gene panel with over 400 nuclear-encoded genes of high diagnostic quality has been available at the MGZ. What’s new is that a parallel enrichment of mitochondrial DNA (mt-DNA) is now possible in our diagnostic procedure. As such, disease-causing changes in mt-DNA, even in a low degree of heteroplasmy, can be detected if appropriate requirements are met.

We have summarized the diagnostic procedure for mitochondrial diseases in our clinician information brochure titled, “Mitochondrial Diseases”.

You may also request this information by post, by sending an email to inquiry@mgz-muenchen.com.

View our current list of gene panels for mitochondrial diseases here.

Still have questions about mitochondrial diseases?  Do you wish to know more about the clinical utility of genetic testing for your specific patient case? Our team of clinical geneticists is available for clinical consultations.

Contact us to arrange an email/phone contact with one of our genetic specialists.  We look forward to assisting you in finding the right diagnostic strategy.