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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Personalizing Therapeutic Decisions in Fabry Disease
More than a single treatment option is available for some genetic disorders. For Fabry Disease, the optimal choice requires biochemical characterization of the causative mutation. Using a novel assay, researchers from Rostock University and CENTOGENE have now re-investigated almost 200 Fabry…
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A Novel Neurodevelopmental Disorder
Brain development is a highly complex process involving numerous proteins. The latest addition to this list is YIF1B: its absence due to bi-allelic inactivating mutations results in a severe neurological disorder.
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Frequent Genetic Cause of Seizures Identified
The etiology of seizures is highly heterogeneous and involves an unknown number of distinct genetic disorders. An international team of researchers recently defined recessive mutations in the UGDH gene as a novel and surprisingly frequent cause of seizures and developmental delay. By querying its…
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CentoLCV – El nuevo estándar para detectar desequilibrios cromosómicos
Mira el webinar sobre CentoLCV™, nuestro nuevo análisis integral de variación de número de copias (CNV), y aprender por qué es el nuevo estándar para establecer diagnósticos moleculares más precisos en comparación con las pruebas convencionales que utilizan microarrays.
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Generation of iPSCs for Rare Diseases
Induced pluripotent stem cells (iPSCs) represent excellent in vitro models to study rare diseases and perform high-throughput drug screening. CENTOGENE has established iPSC technology for rare monogenetic diseases in its Rostock headquarters based on patient-derived fibroblasts.