Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS

• Main Authors: Silje Hogner (Author), Emma Lundman (Author), Janne Strand (Author), Mari Eknes Ytre-Arne (Author), Trine Tangeraas (Author), Asbjørg Stray-Pedersen (Author)
• Format: Book
• Published: MDPI AG, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV). DNA is extracted from dried blood spot (DBS) filter cards. For monogenic disorders caus...