Gegunde opdrachtLeveringenEuropees

Optical Genome Mapping

Radboud Universitair Medisch Centrum/KGCN

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Omschrijving

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 gained a lot of experience concerning technology, (bioinformatic) analysis and necessary infrastructure. Based on this positive experience, broader usage of this technology was desired and since October 2024 this technology is now offered within clinical routine for a limited number of hematological indications. To be able to include more indications and thus increase throughput while keeping or even improving current turnaround times, a further expansion of optical genome mapping equipment is necessary. Therefore, the intention is to acquire an optical genome mapping instrument that has a higher throughput than the currently used ones, including accompanying servers, software and consumables. In case of successful implementation of the technology, further expansion of the equipment is very likely.