genetic disorders
Revvity to Provide Genome Sequencing for North Carolina Newborn Screening Study Under Deal With RTI
Starting in May, Revvity will sequence the genomes of infants that are part of RTI International's Early Check study to identify rare childhood-onset genetic conditions.
The company hopes the workflow, which covers everything from sample collection to data analysis, will help establish sequencing in existing newborn screening labs.
For just under $3,000, the company analyzes DNA from a child's saliva sample by whole-genome sequencing, screening for genetic variants associated with more than 300 diseases.
Sema4's GeneDx to Provide Genome Sequencing, Interpretation for Large-Scale Newborn Screening Study
The GUARDIAN (Genomic Uniform-screening Against Rare Diseases in All Newborns) study plans to screen 100,000 newborns for up to 250 rare genetic conditions.
Sick Infants Profiled With WGS See Better Diagnosis, More Care Changes
The results shore up prior studies and add to the growing evidence for the benefits of rapid whole-genome sequencing in critically ill newborns.