Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing i...

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Bibliografski detalji

Glavni autori:	Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen
Format:	Artigo
Jezik:	Inglês
Izdano:	MDPI AG 2021-07-01
Serija:	International Journal of Neonatal Screening
Teme:	next generation sequencing newborn screening neonatal screening first-tier test second-tier test tandem mass spectrometry
Online pristup:	https://www.mdpi.com/2409-515X/7/3/50
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