Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

[摘要] BackgroundThere are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES.

[学科分类] 儿科学

[关键词] whole exome sequencing;next generation sequencing;diagnosis;children;clinical utility;pediatrics