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Genetic diagnostics
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Genetic diagnostics

We have recently expanded our diagnostic portfolio. You can now choose between single gene analyses and gene-panels designed for a multitude of clinical phenotypes and different patterns of inheritance. It is also possible to compile an individual gene-panel based on your requirements. If you are interested in an individual panel design, please do not hesitate to contact us. An overview of our currently available panels can be found here. The new request forms for panel diagnostics (German) are available here.

In cooperation with the human genetics section of the Cologne University Hospital´s “MVZ” (the outpatient center), the Institute of Human Genetics offers a broad spectrum of modern genetic analyses for a multitude of diagnostic questions. We regularly use next-generation sequencing, conventional Sanger-sequencing, a high-resolution array-CGH platform as well as MLPA and real-time-PCR applications.

Most of the genetic diseases for which we offer molecular diagnostics are being investigated by one of the Institute´s research groups. In many cases, there is also a clinical expert for the respective disease available in the University Hospital Cologne. Head of genetic diagnostics is Prof. Dr. Christian Netzer, MD.

For any questions regarding genetic diagnostics, please get in contact with our secretary (Tel. +49 221 478-86811, A. Neke) or via [Email protection active, please enable JavaScript.].

The Institute´s diagnostic laboratory participates in quality measures of the German professional organization for Human Geneticists (Berufsverband Deutscher Humangenetiker e. V.) and of the European Molecular Genetics Quality Network (EMQN). It has been certified according to ISO 9001 by the German TÜV (Technischer Überwachungsverein = Technical Inspection Association).