Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
Abstract The introduction of rapid exome sequencing (rES) for critically ill neonates admitted to the neonatal intensive care unit has made it possible to impact clinical decision-making. Unbiased prospective studies to quantify the impact of rES over routine genetic testing are, however, scarce. We performed a clinical utility study to compare rES to conventional genetic diagnostic workup for critically ill neonates with suspected genetic disorders. In a multicenter prospective parallel cohort study involving five Dutch NICUs, we performed rES in parallel to routine genetic testing for 60 neo... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2023 |
Reihe/Periodikum: | European Journal of Pediatrics ; volume 182, issue 6, page 2683-2692 ; ISSN 1432-1076 |
Verlag/Hrsg.: |
Springer Science and Business Media LLC
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Schlagwörter: | Pediatrics / Perinatology and Child Health |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26848700 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://dx.doi.org/10.1007/s00431-023-04909-1 |