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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A New Phenotype for a Known Neurological Disorder
Hereditary disorders of the nervous system may present with a wide spectrum of symptoms. Bi-allelic mutations in GBA2, classically associated with abnormal gait, have recently been found to also cause dystonia.
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Clinical Expertise in Genetic Disorders
The fact that many lysosomal storage disorders may have a neurological component is incompletely understood. Clinical studies on this topic therefore require clear definitions of eligible patient cohorts.
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Consanguinity and Recessive Disorders
High consanguinity is associated with a high prevalence of recessive genetic disorders. CENTOGENE recently contributed to a study which confirmed this notion in Arab communities in Israel. Whole exome sequencing identified causative homozygous variants in >50% of patients with neurological…
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Genetics of the Blood-Brain Barrier
Proper function of the blood-brain barrier relies on the so-called tight junctions. In four families, one of which was identified at CENTOGENE, mutations in the tight junction-encoding gene JAM2 were recently shown to result in brain calcification.
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Niemann-Pick tipo C: Dos genes – muchos cuadros clínicos – un biomarcador unificador
Mira nuestro webinar sobre Niemann-Pick tipo C, un raro trastorno genético progresivo caracterizado por la incapacidad del cuerpo para transportar el colesterol y otras sustancias grasas (lípidos) dentro de las células.