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Clin Exp Pediatr > Accepted Articles
DOI: https://doi.org/10.3345/kjp.2019.00808    [Accepted]
Published online November 4, 2019.
Genetic Tests by Next Generation Sequencing in Children with Developmental Delay and/or Intellectual disability
Ji Yoon Han  , In Goo Lee 
Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea
Correspondence: 
In Goo Lee, Tel: +82-2-2258-6186, Fax: +82-2-537-4544, Email: iglee@catholic.ac.kr
Received: 15 July 2019   • Revised: 7 October 2019   • Accepted: 24 October 2019
Abstract
Development in next generation sequencing (NGS) technologies have assisted to clarify diagnosis and treatment of developmental delay (DD)/intellectual disability (ID) via molecular genetic testing. Advance in DNA sequencing technology have allowed not only the evolution of targeted panels, but also more currently, have enabled genome-wide analyses to progress from the research to the clinical era. Broad acceptance of accuracy-guided application of targeted panel sequencing, whole exome sequencing or whole genome sequencing for DD/ID need prospective analyses of the increasing cost-effectiveness versus conventional genetic testing. Choosing the appropriate sequencing method requires individual planning. Data are required to guide best-practice recommendations of genomic testing, regarding various clinical phenotypes in an etiologic approach. Targeted panel testing may be recommended as a first-tier testing approach for children with DD/ID. Family-based trio testing by whole exome sequencing/whole genome sequencing (WES/WGS) can be used as a second test for DD/ID in undiagnosed children testing negative to a targeted panel, previously. The role of NGS in molecular diagnostics, treatment, prediction of prognosis will increase further during the coming years. Given the rapid step of changes in the past 10 years, all medical providers should be aware of the changes in the transformative genetic field.
Key Words: Next generation sequencing, Developmental delay, Intellectual disability




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