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...

Ful tanımlama

Kaydedildi:

Detaylı Bibliyografya
Asıl Yazarlar:	Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	MDPI AG 2021-07-01
Seri Bilgileri:	International Journal of Neonatal Screening
Konular:	next generation sequencing newborn screening neonatal screening first-tier test second-tier test tandem mass spectrometry
Online Erişim:	https://www.mdpi.com/2409-515X/7/3/50
Etiketler:	Etiketle Etiket eklenmemiş, İlk siz ekleyin!

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

Benzer Materyaller