Klinische Anwendung der Hochdurchsatz-Sequenzierung (next-generation sequencing, NGS) bei der Diagnostik des Usher-Syndroms

Abstract

Purpose. The aim of this publication is to describe the clinical application of high-throughput sequencing (next-generation sequencing, NGS) and its advantages compared with Sanger sequencing using Usher syndrome as an example. Material and Methods. Genetic diagnostics is subject to rapid progress. The identification of disease-causing genetic alter- ations enables increasingly accurate diagnosis of hereditary diseases, making it possible to give affected individuals more precise information about the nature of the disease (course, treatment options, prognosis). Genetic diagnostics of patients and their relatives enables not only to determine the diagnosis of a disease, but its recurrence risk in the family. Results. Usher syndrome is an autosomal recessively inherited disorder, characterized by sensorineural hearing impairment and vision loss (due to retinitis pigmentosa). Several genes are known to be associated with 3 clinical subtypes of Usher syndrome. Conclusion. Advances in genetic diagnostics, including high-throughput sequencing (next-generation sequencing, NGS), today enable uncomplicated, quick and reliable diagno- sis of genetic eye diseases such as Usher syndrome. Through their own diagnosis (or the diagnosis of their child), patients and families can be informed about the prognosis and use meaningful tools early on. Family members of an affected person can be tested for carriership. Keywords Usher syndrome, next-generation sequencing, genetic testing, genetic counseling, genetic heterogeneity