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' techno…
logy 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 pr