genetic disorders
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.
The technology has been licensed by MGeneRx, which plans to commercialize it in the US first, then expand to low- and middle-income countries.
Yourgene Health Gets CE Mark for Iona NIPT Test
The test has been developed to run on Illumina's NextSeq 550Dx next-generation sequencing platform and will be prepared for commercial launch in Europe.