Levering en implementatie van en onderhoud aan een gevalideerde Totaaloplossing voor de SCID- en SMA-screening ten behoeve van meerdere laboratoria

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Neonatal heel-prick screening (NHS) is a nationwide screening programme that is carried out on newborn babies in the first week after birth. In the Netherlands (European Netherlands and Caribbean Netherlands), approximately 170,000 newborn babies receive the heel-prick test each year. Heel-prick screening is the longest-running nationwide screening programme in public health care. Analysis of heel-prick blood currently provides important information on twenty-seven rare, often inherited, serious conditions. From 2026, the blood test will be performed by three screening laboratories, of which the screening laboratory of RIVM-GZB functions as the reference laboratory. The screening laboratories are responsible for analysing the heel-prick blood sample and for timely reporting of the results. In all screening laboratories, from January 2021, among other things, a Total Solution for SCID screening is used. From 1 June 2022, SMA has also been added to the programme and the laboratories screen with a multiplex Total Solution that enables screening for both SCID and SMA. In addition, there is the possibility that, in the coming years, it may be decided that X-linked agammaglobulinaemia…

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