Article 1 DNA extraction 1 amplicon 1 diagnostic test accuracy study 1 diagnostic value 1 dried blood spot (DBS) 1 gene library 1 genome 1 high throughput sequencing 1 human 1 inborn error of metabolism 1 inborn errors of metabolism (IEM) 1 indel mutation 1 measurement repeatability 1 newborn 1 newborn screening 1 newborn screening (NBS) next generation sequencing (NGS) 1 pilot study 1 quality control procedures 1 second-tier test 1 sensitivity and specificity 1 sequence analysis 1 single nucleotide polymorphism 1 turnaround time 1 validation process 1