Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

• Hlavní autoři: Allan Meldgaard Lund (Autor), Flemming Wibrand (Autor), Kristin Skogstrand (Autor), Marie Bækvad-Hansen (Autor), Niels Gregersen (Autor), Brage Storstein Andresen (Autor), David M. Hougaard (Autor), Morten Dunø (Autor), Rikke Katrine Jentoft Olsen (Autor)
• Médium: Kniha
• Vydáno: MDPI AG, 2021-07-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

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...