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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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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Biomarcadores: acelerando diagnósticos y guiando tratamientos
Mira nuestro webinar sobre biomarcadores, donde discutiremos un enfoque multiómico, que combina información sobre la genómica, la proteómica y la metabolómica, para acelerar la interpretación de los datos y el desarrollo de biomarcadores que cambian la vida de las enfermedades raras.
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Biomarkers: Accelerating Diagnoses and Guiding Treatments
Watch our webinar, where Prof. Peter Bauer, MD discusses a multiomic approach to accelerate the interpretation of data and the development of life-changing biomarkers for rare diseases. Throughout the webinar, he will provide an overview of the challenges of diagnosing rare diseases and give…
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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.