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
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A Novel Therapeutic Concept for Fabry Disease
Fabry disease is caused by mutations that affect the lysosomal enzyme α-galactosidase, but the pathophysiology of the disease remains to be completely understood. A recent study that was co-authored by CENTOGENE’s CEO Prof. Arndt Rolfs revealed misfolding of mutant α-galactosidase in the endoplasmic…
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Large Patient Cohort Enables Insights into a Rare Disease
Farber disease (FD) is a severe disorder for which rarity has hampered a comprehensive understanding. A recent study on a large cohort of patients provides unprecedented novel insights into FD. The study, to which CENTOGENE contributed genetic as well as biomarker data, was published in Clinical…
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Successful Monitoring of Gaucher Disease
Biomarkers are key tools in establishing a diagnosis and monitoring rare disorders. The lipid metabolite Lyso-Gb1 has long been known as an excellent diagnostic biomarker. In a recent study, which was initiated and led by researchers at CENTOGENE, Lyso-Gb1 was shown to also be ideally suited for…
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Testing of Novel Treatment Options for Niemann-Pick Disease
The search for causative treatments continues to be a leading challenge in rare disease research. Using varying models, researchers recently investigated the potential effects of a novel candidate drug for improving neurological symptoms of Niemann-Pick disease.
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Multiomics and Biomarkers in Rare Diseases Supporting Development and Commercialization of Orphan Drugs
Watch our webinar to learn about innovative methods to tackle the challenges of orphan drugs in early stage development, clinical trial enrollment, and market development.