Children's Hospital Boston
Pediatric Patients Face Barriers Receiving Exome Sequencing From Insurance, Scheduling Delays
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A recent analysis found that it can take between five days and more than a year from when testing is first considered to sample collection.
DNA Medicine Institute Wins $1.5M NIH Grant to Develop Point-of-Care Factor VIII, Hemlibra Test
The test, which is licensed to rHealth, monitors FVIII levels in the blood of patients with hemophilia A patients, who lack the clotting protein.
Boston Children's Coronavirus Test Gets Emergency Use Authorization
The test is designed to detect one target sequence of the SARS-CoV-2 spike glycoprotein gene in nasopharyngeal and certain other respiratory specimens.
Boston Children's Hospital Working to Demonstrate Clinical Utility of Rapid Exome Sequencing in NICU
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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.