At an AMP virtual meeting workshop, a Mayo Clinic lab director offered advice on what diseases to include, how to handle VUSs, and other considerations for ECS.
Based on the results of Project Baby Bear, Rady Children's Hospital-San Diego hopes the State of California will cover rapid whole-genome sequencing going forward.
Blueprint provides 3,900 targeted single-gene and more than 200 panel tests covering 14 medical specialties, leveraging NGS and bioinformatics methods.
Researchers in the US and the United Arab Emirates found that RNA-seq in B-lymphoblastoid cell lines can help identify pathogenic variants that DNA testing missed.
The company announced this week the expansion of a genetic testing program for US patients with inherited retinal disease that it has run with partners since 2017.
