Genetic testing


The genetic causes of mitochondrial metabolic dysfunctions are manifold and these diseases can be caused by mutations in both the nuclear and mitochondrial genomes. In a few cases, where there is a clear clinical suspected diagnosis, a genetic investigation of typical, common mutations leads to diagnosis. A list of these mutations can be found on our allocation form.
A further genetic investigation can be carried out, especially in patients with a clear biochemical diagnosis. A list of genetic investigations which can demonstrably induce mitochondrial dysfunctions is enclosed. Some of the investigations are only carried out in Salzburg or Munich. We therefore request that you contact one of our laboratories prior to allocation in order to inform you of the location which is appropriate for your enquiry.
In addition to the genes cited, still more candidate genes are being handled within the framework of research projects. This also enables us to establish new investigations on an individual basis when interesting questions arise. Please feel free to contact us regarding this as and when required.

Specimen for genetic testing:

Depending on the suspected defect
min 10 mg of muscle tissue, fibroblast culture, 10 ml urine or 2 ml of EDTA blood
Demands should be clarified by prior consultation of our laboratory
Shipping of tissue on dry ice in a thermally isolated container
see Shipping instructions


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Biochemical analyses