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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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Hlavní autoři: Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI AG 2021-07-01
Edice:International Journal of Neonatal Screening
Témata:
next generation sequencing
newborn screening
neonatal screening
first-tier test
second-tier test
tandem mass spectrometry
On-line přístup:https://www.mdpi.com/2409-515X/7/3/50
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