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15th International Congress for Neuromuscular Diseases

 

Visit us between July 6-10 at booth #13 at the upcoming 15th International Congress for Neuromuscular Diseases in Vienna. In addition to information on our genetic services and analyses, you can also find out specific information about the following topics:

Mitochondrial Diseases

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, the analysis of a gene panel with over 400 nuclear-encoded genes of high diagnostic quality has been available for diagnostics, especially in cases of suspected mitochondrial encephalopathy. What is new is that a parallel enrichment of mitochondrial (mt) DNA is possible in our diagnostic procedure. In this way, disease-causing changes in mt-DNA, even in a low degree of heteroplasmy, can be detected if appropriate requirements are met.

Hereditary Spastic Paraplegia (HSP)

Hereditary spastic paraplegia is a "relatively common" rare disease with a prevalence of 1:10,000. Learn more about our diagnostic strategy for HSPs and the clinical value of genetic diagnostics for the disease.

 

We have compiled information for you about these topics in the following clinician information brochures:

Mitochondrial Diseases

Hereditary Spastic Paraplegia (HSP)

 

Additional information on the 15th International Congress for Neuromuscular Diseases can be found at the following link:

Website of the Event