ResourceClinical Diagnostics
Whole genome sequencing is driving improved health outcomes for newborns
27 Sept 2024Millions of people (many of them infants and young children) suffer from misdiagnosed or undiagnosed diseases due to insufficient genetic testing. Whole genome sequencing (WGS) has the potential to streamline genetic assessments and help provide early intervention.
In this case study, Revvity assesses the clinical utility of genome sequencing versus a gene panel for a curated set of medically actionable pediatric-onset conditions in the largest-to-date cohort of apparently healthy newborns and children tested at a single clinical laboratory.