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...

詳細記述

書誌詳細

主要な著者:	Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2021-07-01
シリーズ:	International Journal of Neonatal Screening
主題:	next generation sequencing newborn screening neonatal screening first-tier test second-tier test tandem mass spectrometry
オンライン･アクセス:	https://www.mdpi.com/2409-515X/7/3/50
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