Consultation Optical Genome Mapping

# Introduction The Department of Human Genetics/KGCN of the Radboud University Medical Center is a leading academic laboratory. During the past years they have extensively tested a new 'next generation cytogenetics' technology called optical genome mapping. This new technology has several benefits when it comes to the detection of structural variants and copy number variants - and has the potential to replace current standard-of-care cytogenetic technologies such as karyotyping - CNV-microarray and FISH (Neveling et al - AJHG 2021; Mantere et al - AJHG 2021). Such a replacement can facilitate and likely even improve patient diagnostics. As one of the first laboratories in Europe - Human Genetics Nijmegen tested optical genome mapping for several research projects within a pilot period of 2 years - and thereby...