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Metabolic Disorders

Diagnosis through genetic testing can strongly help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering with suspected genetic metabolic disorders. With knowledge of variants in over 1,250 metabolic disease genes, our rapid testing and extensive experience of metabolic disease genetics can help you diagnose and manage your patients’ metabolic disorder quickly and correctly. Ultimately this can provide new insights into treatment options and predict the likelihood of passing the inherited condition on to offspring or the presence of it elsewhere in the family.

Articles on Metabolic Disorders

  • 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…

  • Improved diagnostic options

    Large genomic rearrangement mutations are hard to detect by conventional genetic diagnostic approaches, but easily identified by the MLPA technology. For MPS I, a recessive lysosomal storage disorder, a correspondingly developed approach involving scientists from CENTOGENE proved highly successful.…

  • 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…

  • Novel disease gene discovered

    The discovery of novel genetic disorders increasingly relies on large databases and on collaborative international efforts. CENTOGENE is proud to be part of numerous pertinent research endeavors. A recently accomplished corresponding project identified mutations in the PIGB gene as underlying a…

  • Utility of a CENTOGENE-developed biomarker

    Metabolic biomarkers are well-accepted diagnostic tools, and may also qualify for monitoring purposes. The longitudinal dynamics of Lyso-Gb1, an established diagnostic biomarker for Gaucher disease (GD), was recently determined using CENTOGENE’s corresponding mass-spectrometry assay. Based on…