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.
Consent Form Whole Genome Sequencing Order Form.
For the application of Whole Genome Sequencing (WGS) and Third Generation Sequencing technologies, see also "Research" and section "Nanopore Sequencing".