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.
Richelle A C M Olde KeizerAbderrahim MarouaneWilhelmina S Kerstjens-FrederikseA Chantal DedenKlaske D LichtenbeltTinneke JonckersMarieke VervoornMaaike VreeburgLidewij HennemanLinda S de VriesRichard J SinkeRolph PfundtServi J C StevensPeter AndriessenRichard A van LingenMarcel NelenHans SchefferDaphne StemkensCor OosterwijkHans Kristian Ploos van AmstelWillem P de BoodeWendy A G van Zelst-StamsGerardus W J FrederixLisenka E L M Vissersnull nullPublished in: European journal of pediatrics (2023)
• This unique prospective national clinical utility study of rES in a NICU setting shows that rES obtained more and faster diagnoses than conventional genetic tests. • Implementation of rES as replacement for all other genetic tests does not increase healthcare costs but in fact leads to a reduction in healthcare costs.