At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.
The $649 NGS test screens for 193 disorders, can be ordered online, and is designed to supplement standard state newborn screening services.
The so-called ACT sheets are one pagers that guide doctors on what to do after receiving a genetic test results for a patient.
Last week, the company launched whole-genome sequencing of children for customers of its ViaCord cord blood and tissue banking business.
Baebies said its deal with Labsystems enables it to provide a more comprehensive newborn screening offering to its customer base in global markets.
The developers maintain that the new assay would address an unmet market need for a DMD screening test.
The investment bank, which maintained its $60 price target for the company's stock, said it is looking for signs of revenue acceleration.
Sequencing the genomes of newborns is still a contentious undertaking with technical and ethical hurdles, although for sick infants, it has been successful.
PerkinElmer may be nearing an FDA submission for a panel based on technology from the University of Washington, amid a push for state-mandated screening programs.
Under a five-year NIH grant, the researchers will evaluate whether earlier diagnosis of fragile X and SMA leads to earlier intervention and improved outcomes.