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Rare Diseases

The diagnosis of unclear rare diseases requires the use of different genetic examination techniques.

Our goal is to offer a clarification that is optimized for each patient. In some cases, diagnostics go beyond "routine diagnostic". In close cooperation with the colleagues of the neuropediatric outpatient clinic, Kinderklinik LKH Graz, systematic clinical characterization and the use of various diagnostic methods are used to find the cause of genetic syndromes, developmental disorders and malformations. In cooperation with the Institute of Pathology and the Vascular Outpatient Department of the Pediatric Surgery department, we work on improving the diagnosis of mosaic diseases.

In order to ensure quality of the constantly evolving analysis methodology and sequencing technologies, we collaborate with other Austrian human genetic institutes.

Our projects in this area focus on practical research to improve the diagnostic options for our patients.

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