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International Journal of Neonatal Screening
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International Journal of Neonatal Screening, Volume 8, Issue 3

2022 September - 12 articles

Cover Story: Newborn screening for treatable disorders has been a great success worldwide. Starting with phenylketonuria in the 1960s, the number of conditions screened has grown significantly by adopting new technologies such as tandem mass spectrometry. However, the process of adding new analytes to test for additional disorders is time consuming and will be constrained by the size blood spot card sample. Next-generation sequencing (NGS) could transform newborn screening from a test for tens of conditions to one that screens for hundreds. There are more than 700 treatable genetic conditions in childhood and the number is growing with the advent of gene therapy. In the commentary “Newborn Screening by Genomic Sequencing: Opportunities and Challenges”, the authors examine the possibilities offered by NGS. View this paper
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Int. J. Neonatal Screen. - ISSN 2409-515X
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