Our genetic testing supports you in the clarification of hereditary diseases of the brain and nervous system

 

Epilepsies, ataxias, mental retardation. Three examples of neurological diseases that can be triggered by changes in the genome. The series can be continued as the spectrum of neurogenetic diseases is broad.

Diseases of the brain or nervous system can occur at any age and with varying intensity. They often have a large number of subtypes with strong phenotypic overlaps. This makes clinical diagnosis difficult. In order to avoid delays in diagnosis, multiple examinations or unsuccessful tests, guidelines recommend the integration of genetics. With knowledge of the underlying mutation, attending physicians learn which type of disease is present - decisive for individual patient care, prognostic assessment and therapeutic measures. The first therapies are on the market: the active ingredient Nusinersen for the treatment of spinal muscular atrophy - one of the most common hereditary diseases in children. In neuromuscular disorders, the nerve cells in the spinal cord die. The drug slows this process down. With success - provided the diagnosis is made in good time. In this way, children can be saved from the loss of muscle strength. Driven by new technical possibilities in DNA analysis and on the basis of rapidly growing scientific knowledge, further mutation-dependent therapies - so-called orphan drugs - are emerging.

Genetic testing opens the door to new drugs or therapy studies. With knowledge of the underlying genetic change and the hereditary pattern, risk carriers within a family can be identified at an early stage. Patients and their relatives receive valuable information on the risk of recurrence if they wish to have children. To date, genetic variants associated with neurological diseases have been identified in more than 1,000 different genes. We analyze all the genes described. Take a look at our wide range of diagnostics and our daily gene panels.

 

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Genetic counseling

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