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

Silje Hogner; Emma Lundman; Janne Strand; Mari Eknes Ytre-Arne; Trine Tangeraas; Asbjørg Stray-Pedersen

doi:10.3390/ijns9040067

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

Int J Neonatal Screen. 2023 Dec 7;9(4):67. doi: 10.3390/ijns9040067.

Authors

Silje Hogner¹, Emma Lundman¹, Janne Strand¹, Mari Eknes Ytre-Arne¹, Trine Tangeraas¹, Asbjørg Stray-Pedersen¹

Affiliation

¹ Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.

Abstract

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 caused by variants in one single gene or a few genes only, Sanger sequencing has been shown to be the most time- and cost-efficient method to use. Here, we present the Sanger sequencing method, including primer sequences and the genetic test algorithms, currently used in the Norwegian newborn screening program.

Keywords: Sanger sequencing; dried bloodspots; extraction; newborn screening.

Grants and funding

This project was financed by the National Norwegian newborn screening program.