The latest news on next-generation sequencing.
The study aims to enroll 10,000 Floridians to have their exomes screened for variants indicative of familial hypercholesterolemia risk.
Researchers plan to compare rapid whole-genome sequencing with standard diagnostic methods in 200 critically ill newborns.
The test is based on RNA sequencing and is used to differentiate between idiopathic pulmonary fibrosis and other lung diseases in order to avoid surgery.
Individuals identified as needing homozygous FH evaluation will receive confirmatory genetic testing from Invitae and genetic counseling from Genome Medical.
The test will run on Oxford Nanopore's MinIon and will be used as a reflex test when the standard PCR test does not give a clear answer.
In a retrospective analysis, UK researchers found that long-read sequencing of HLA genes in stem cell transplantation donors and recipients led to better outcomes.
A study presented at the AACR meeting showed that Resolution's ctDx-Lung assay reported more oncogenic fusions than Guardant360 in NSCLC patients.
The Medicare contractor said in its draft guidance it would provide limited coverage for the cell-free DNA assay, which should be used as a supplemental test.
The hospital is in the process of clinically validating a sequencing pipeline for its pediatric cancer patients, with the goal of demonstrating clinical utility.
CMS had received significant stakeholder feedback that germline NGS testing is not the same as somatic testing, and that the NCD as written would negatively impact patients.