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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Autors principals:	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
Idioma:	Inglês
Publicat:	MDPI AG 2021-07-01
Col·lecció:	International Journal of Neonatal Screening
Matèries:	next generation sequencing newborn screening neonatal screening first-tier test second-tier test tandem mass spectrometry
Accés en línia:	https://www.mdpi.com/2409-515X/7/3/50
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