Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
Bennett Oh Vic ShumCarel Jacobus PretoriusLetitia Min Fen SngIlya HennerPaulette BarahonaEmre BasarJim McGillUrs WilgenAnna ZournaziLilian DownieNatalie TaylorLiam CheneySylvania WuNatalie Angela TwineDenis Carolin BauerGerald Francis WattsAkash NavilebasappaKishore Rajagopal KumarJacobus Petrus Johannes UngererGlenn BennettPublished in: Clinical chemistry (2023)
We demonstrate that a TGS assay could be incorporated into an NBS program soon to increase the number of conditions screened. Additionally, we conclude that NBS using TGS may be cost-effective.