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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Improving Diagnostic Options for Rare Diseases
A diagnostic strategy for rare diseases based on a combination of standard laboratory parameters has long been sought after. To help advance this approach, CENTOGENE actively participates in corresponding research initiatives. Data from one such study, addressing Gaucher disease, was recently…
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Cómo los biomarcadores transforman los diagnósticos genéticos
A lo largo del seminario web, Pilar Guatibonza, MD, y Carlos Manrique, MD, brindan una descripción general de cómo los biomarcadores multiómicos desempeñan un papel esencial en el diagnóstico temprano, la predicción y el seguimiento terapéutico
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How Biomarkers Transform Genetic Diagnostics
Throughout the webinar, Dr. Tobias Böttcher provided an overview of how multiomic biomarkers play an essential role in early diagnosis, prediction, and therapeutic monitoring of Niemann-Pick Disease Type A, B, and C.
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Salud Reproductiva y Diagnóstico Genético Prenatal
A lo largo del CentoTalk, Pilar Gutibonza, MD, proporciona una descripción detallada de las opciones de detección prenatal de CENTOGENE y cómo las pruebas prenatales juegan un papel esencial.
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Cómo los biomarcadores transforman el Diagnóstico Genético
A lo largo de nuestro CentoTalk hablamos sobre la enfermedad de Fabry y la aplicación práctica de los biomarcadores que está ayudando a cambiar el juego de los diagnósticos genéticos.