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<p>Laboratory diagnostics play a&#xa0;decisive role in rheumatology. In addition to various autoantibodies, molecular genetic tests also help to classify a&#xa0;wide range of symptom complexes and ultimately to make a&#xa0;diagnosis. Histocompatibility genes, such as HLA-B51 are clinically important in the context of Behcet’s disease, as is the detection of mutations in the diagnosis of monogenic hereditary fever syndromes, e.g. in the MEVF gene in familial Mediterranean fever. When initiating genetic testing, it is important to consider the legal basis, such as the obligation to provide information as well as patients’ rights. In addition, it is necessary to be aware of the clinical and epidemiological characteristics of the different diseases in order to be able to initiate diagnostics that are as targeted as possible. As with antibody diagnostics, genetic tests in rheumatology must always be interpreted in the clinical context and never have any diagnostic or even therapeutic relevance on their own.</p>

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Gendiagnostik bei Fiebersyndromen

  • 期刊论文

  • 发表日期：

    2025年7月1日

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  • Christina Gebhardt,
  • Hendrik Schulze-Koops

摘要

Laboratory diagnostics play a decisive role in rheumatology. In addition to various autoantibodies, molecular genetic tests also help to classify a wide range of symptom complexes and ultimately to make a diagnosis. Histocompatibility genes, such as HLA-B51 are clinically important in the context of Behcet’s disease, as is the detection of mutations in the diagnosis of monogenic hereditary fever syndromes, e.g. in the MEVF gene in familial Mediterranean fever. When initiating genetic testing, it is important to consider the legal basis, such as the obligation to provide information as well as patients’ rights. In addition, it is necessary to be aware of the clinical and epidemiological characteristics of the different diseases in order to be able to initiate diagnostics that are as targeted as possible. As with antibody diagnostics, genetic tests in rheumatology must always be interpreted in the clinical context and never have any diagnostic or even therapeutic relevance on their own.