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The test, which is licensed to rHealth, monitors FVIII levels in the blood of patients with hemophilia A patients, who lack the clotting protein.
The test is designed to detect one target sequence of the SARS-CoV-2 spike glycoprotein gene in nasopharyngeal and certain other respiratory specimens.
Under a collaboration with GeneDx, Boston Children's has rapidly sequenced the exomes of 20 NICU babies and have arrived at a likely diagnosis in around 85 percent.
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 company launched in 2013 as a spinout from Boston Children's Hospital to provide genetic diagnostic tests.