Kurzfassung

The platform "Advanced Diagnostics" aims at the implementation of new diagnostic modalities at the Center for Thrombosis and Hemostasis (CTH). In this context, we develop new diagnostic tools, in particular for translational applications in clinical research and patient care ("to-bedside") but also as a crystallization seed for basic scientific work ("to bench"). Thus, the platform "Advanced Diagnostics" represents an important link between basic science and clinical research in the global...The platform "Advanced Diagnostics" aims at the implementation of new diagnostic modalities at the Center for Thrombosis and Hemostasis (CTH). In this context, we develop new diagnostic tools, in particular for translational applications in clinical research and patient care ("to-bedside") but also as a crystallization seed for basic scientific work ("to bench"). Thus, the platform "Advanced Diagnostics" represents an important link between basic science and clinical research in the global concept of the CTH as an integrated research and treatment center.
The platform offers molecular genetic analyses of patient / proband samples with a focus on thrombosis and hemostasis which may be adapted to  requirements of research projects. Core of the platform is a targeted high-throughput sequencing approach of a dedicated set of genes involved in thrombosis and hemostasis, platelet- and vascular function as well as disease states such as atherosclerosis or vascular inflammation (extended candidate gene sequencing approach). A set of 92 genes of known clinical significance in thrombosis and hemostasis is the constant basis of the gene panel sequencing assay and serves as basic diagnostic tool for the out-patient units of the CTH; it is designed to identify monogenic or oligogenic diseases. The gene panel is complemented by a set of about 300 genes selected in cooperation with CTH scientists. The composition of the gene panel, however, is not fixed, and can be extended by other gene modules thereby ensuring a flexible and rapid adaptation of the assay according to scientific progress and potential interests of further collaborators. Furthermore, services like Sanger sequencing, Pyrosequencing, MLPA (multiplex ligation dependent probe amplification) assays, and fragment analysis by capillary electrophoresis (to analyse large repeat or homopolymer regions) can complement or substitute NGS panel when applicable.» weiterlesen» einklappen