Gevalideerde Totaaloplossing voor de hielprikscreening op stofwisselingsziekten met behulp van massaspectrometrie voor meerdere Laboratoria

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The neonatal heel prick screening (NHS) is a national screening programme carried out on newborns in the first week after birth. In the Netherlands (European Netherlands and Caribbean Netherlands), around 170,000 newborns receive the heel prick each year. Heel prick screening is the longest-running national screening programme in public healthcare. Analysis of heel prick blood currently provides important information about twenty-seven rare, often inherited, serious conditions. From 2026, the blood test will be carried out by three Screening Laboratories, of which the Screening Laboratory of RIVM-GZB acts as the Reference Laboratory. The Screening Laboratories are responsible for analysis of the heel prick blood sample and for timely reporting of the results. The blood test for the presence of fifteen of the twenty-seven diseases is currently performed using mass spectrometry. In order to ensure the required uniform execution of the analyses, the three Screening Laboratories must use the same Tandem mass spectrometry equipment with the associated multiplex kit. To ensure uniformity, quality and efficiency, RIVM has decided to procure and make available the devices (hardware),…

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