Information about NGS-analyses
Next generation sequencing (NGS) methods have significantly increased the elucidation rate of monogenic diseases. Based on this experience, we have routinely switched our diagnostics to exome-based enrichment (Whole Exome Sequencing, WES) and, depending on the clinical question, can offer a comprehensive evaluation of potential genes for your patient based on the exome data collected. In addition to single exome analyses, i.e. the analysis of all protein-coding segments of the approximately 20,000 human genes, we also perform trio analyses (usually mother-father-child) or familial analyses (duo analysis in the case of affected siblings or parent-child pairs). We will be happy to advise you in individual cases.
You can reach us by phone at +49 241 80-80178 and -80427 or by mail at humangenetikukaachende.