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Children's Hospital Boston

Public-Private Effort Leverages WGS to Speed Diagnosis of Rare Genetic Developmental Disorders

Project FIND-OUT aims to recruit 50 infants to study the impact of genetic testing on families and increase access to genetic testing within the US.

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.