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Whole Exome Sequencing – CentoXome®

Most of the disease-causing mutations that science has been able to identify so far are located within the exons. Whereas most genetic tests focus on a single gene or on a set number of predetermined genes, whole exome sequencing examines thousands of genes simultaneously.

Articles on Whole Exome Sequencing

  • One Genetic Variant – 52 Patients

    Schuurs-Hoeijmakers syndrome is one of the few inherited disorders that have been associated with only a single genetic variant. A recent study describes 16 pertinent patients, most of whom were identified by CENTOGENE. This significant extension of the knowledge around Schuurs-Hoeijmakers syndrome…

  • Genetic Causes for Late Onset Neuropathy

    Slowly progressive health issues in the elderly are usually equated to a general age-related decline. In some patients, however, these health issues may be manifestations of late onset genetic disorders. A recent study, which was co-authored by researchers from CENTOGENE, supports this view by…

  • Novel X-linked Syndrome Identified

    Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an depth investigation of 13 affected males from a multi-generational family. This revealed OTUD5 as a novel gene associated with an…

  • Expanding the Genetics of Impaired Neurodevelopment

    The nervous system is particularly vulnerable to genetic defects, and novel pertinent gene-disease associations are still being discovered. A recent example is the link between impaired neurodevelopment and recessive loss-of-function variants in the gene NEMF. Two of the five families that are…

  • Continuum of ‘Distinct’ Neurodegenerative Disorders

    A neurodegenerative disorder may affect distinct types of nerve cells in a patient-specific manner. This suggests that there is actually a continuum of possible pathologies. A recent case report, which was based on a genetic diagnosis established at CENTOGENE, discusses this phenomenon for ATP13A2.…