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.
The pilot builds off the MyCode Community Research Health Initiative, for which Regeneron has been sequencing the exomes of Geisinger participants.
The company offers a range of exome-based tests that include both diagnostic tests for rare disease as well as disease-risk screening for asymptomatic adults.
Hong Kong-based Rainbow Genomics will provide exome sequencing while UCLA will interpret the data and deliver a clinical report.
The company recently switched its diseases gene panels to an exome-based platform and is preparing to open a CLIA laboratory in California.
The firms are collaborating to develop a solution that includes Nightingale's nuclear magnetic resonance assay and PerkinElmer's sequencing services.
Cordlife Group, a Singapore-based consumer healthcare company, has partnered with US company PlumCare to offer genetic testing services in Asia.
The company has also developed two liquid biopsy cancer test, Liquid GPS Core for DNA and Liquid GPS Expression for RNA.
The company launched in 2013 as a spinout from Boston Children's Hospital to provide genetic diagnostic tests.
Funded with €15.4 million from the EU's Horizon 2020 program, the researchers plan to reanalyze almost 20,000 patient exomes and conduct additional tests on selected subgroups.