Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

Abstract

Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease-related genes. The pilot study was primarily proposed for second-tier testing under the NBSIEM program in Hong Kong.

Keywords

• dried blood spot (dbs)
• inborn errors of metabolism (iem)
• newborn screening (nbs)
• next generation sequencing (ngs)
• second-tier test