genetic disorders
Genomic testing for almost 1,300 autosomal recessive or X-linked conditions appeared to be feasible, well accepted, and informative for couples in Australia.
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.
Healthcare Implementation Study in Israel Finds Rapid Newborn Genome Sequencing Feasible, Beneficial
Researchers used rapid trio genome sequencing on critically ill infants across the country, finding pathogenic or likely pathogenic variants in half the cases.
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.