Clinical Sequencing

News on sequencing-based testing, NGS gene panels, & diagnostic exomes in genetics, genomics, and molecular diagnostics.

Researchers reached clinical diagnoses in 35 percent of cases undergoing evaluation over 20 months, sometimes leading to treatment changes.

The Stanford spinout has launched an infectious disease test that sequences cell-free pathogen DNA to diagnose sepsis in immunocompromised patients.

At IDWeek 2018, several labs reported that they are now using or developing metagenomic NGS tests to diagnose central nervous system infections.

The project is informing participants of familial hypercholesterolemia genetic test results, and hereditary breast and ovarian cancer, and Lynch syndrome results will follow.

The prospective, multi-site clinical trial will evaluate the clinical utility of unbiased sequencing for identifying pathogens in suspected CNS infections.