epilepsy
GeneDx Launches Program to Boost Access to Exome Testing for Pediatric Epilepsy Patients
In partnership with Biogen, Praxis Precision Medicines, and Stoke Therapeutics, the program will also contribute to GeneDx's rare disease database.
Initial results from a multinational rapid WGS newborn screening program are promising, though organizers hope to create a longitudinal study to support potential clinical uptake.
Invitae, Pacific Biosciences Collaborate on NGS-Based Pediatric Epilepsy Testing
The firms will conduct PacBio whole-genome sequencing on epilepsy patients to generate variant profiles that can help the development of diagnostic assays.
With Low-Cost SARS-CoV-2 Assay, FYR Diagnostics Looks to Bypass Equipment Bottlenecks
The company's adaptive low-resource testing technology requires no instrumentation and limited equipment, making it adaptable to settings without clinical lab infrastructure.
Quest Diagnostics Acquires Blueprint Genetics
Blueprint provides 3,900 targeted single-gene and more than 200 panel tests covering 14 medical specialties, leveraging NGS and bioinformatics methods.