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A missão da Metabolon no diagnóstico é a de incorporar biomarcadores metabólicos em testes que assegurem necessidades médicas ainda não satisfeitas, fornecendo dessa forma informação valiosa na melhoria de decisão terapéutica e acompanhamneto do cliente. A empresa está fortemente focalizada em oncologia, particularmente em problemas clínicos de doenças subestimadas, a discriminação de tumores benignos vs malignos, a identificação de tumores com alta probabilidade de reincidência, a detecção de metástases ocultas, e avaliação de risco de toxicidade de drogas quimioterápicas. Estes testes são realizados no laboratório CLIA da Metabolon.

A poderosa plataforma da Metabolon possibilita a descoberta rápida de biomarcadores clinicamente relevantes. No desenvolvimento tradicional de diagnóstico, antes que o trabalho de teste de diagnóstico possa começar, geralmente são necessários muitos anos de pesquisa clínica para descobrir e validar biomarcadores relevantes para uma determinada doença.  A tecnologia Metabolon acelera o processo de descoberta e validação e, por sua vez, o passo de desenvolvimento do teste de diagnóstico. Para além da descoberta de biomarcadores de diagnóstico, a plataforma permite ainda revelar as mudanças fundamentais no metabolismo que ocorrem em doenças humanas. Ao proporcionar uma compreensão ímpar destas alterações bioquímicas através da Genómica e Proteómica, a Metabolon possibilita revolucionar a forma como a doença humana é estudada, diagnosticada e tratada.

A plataforma Metabolon de descoberta de biomarcadores tem sido usada para identificar biomarcadores para uma série de doenças. Estes biomarcadores têm sido incorporados em testes de diagnóstico clínico nas seguintes áreas:
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