Clear diagnosis with genetic testing is the basis of effective treatment and management for many disorders of the brain and nervous system. Serving as an invaluable tool, genetic testing enables the identification of inherited neurological conditions, such as muscle control and movement disorders, delayed mental development, degeneracy and learning disabilities. With knowledge of variants associated with neurological diseases in more than 1,850 genes, our vast knowledge and diagnostic expertise can help you diagnose your patients quickly and comprehensively.
Articles on Neurology
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Optimizing genetic diagnostics in childhood neurological disease
Costs for genetic testing correlate with comprehensiveness of the tests applied. Clinical exome sequencing (CES) represents an intermediate-cost and intermediate-comprehensiveness option. In a recent study on 88 children that had been referred to CENTOGENE because of severe neurological phenotypes,…
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Delineation of a novel neuro-metabolic syndrome
Neurodevelopmental defects are genetically very diverse, and novel corresponding disease genes continue to be discovered. A recent example is the association between PIGB inactivation and a congenital neuro-metabolic syndrome. The study, which partially built on analyses performed at CENTOGENE, was…
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Novel neurodevelopmental disorder identified
Numerous genes are important for proper development of the nervous system. As part of an international research team, researchers at CENTOGENE contributed to the identification of a novel cause for impaired neurodevelopment. They identified mutations in SVBP, the protein product of which is…
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High scientific value of CentoMD®
Many of the as yet undescribed genetic disorders are ultra-rare. Identification of novel gene-disease associations thus relies on well-curated clinical-genetic data such as contained in CENTOGENE’s proprietary database CentoMD®. In a pertinent recent research project, CentoMD® was used to unravel a…
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Extension of rare disease therapeutic options
Treatment options for rare genetic diseases are often tested in cellular or animal models. CENTOGENE happily supports such projects in collaborative research settings. A recent example relates to a novel therapeutic cocktail for Niemann-Pick disease. Promising preliminary data were obtained in a…