Pediatric Patients Face Barriers Receiving Exome Sequencing From Insurance, Scheduling Delays
A recent analysis found that it can take between five days and more than a year from when testing is first considered to sample collection.
Beckman Coulter Partners With Mass General to Evaluate Pediatric Infection Dx
Using funding from BARDA, the partners will examine whether Beckman's monocyte distribution width assay can predict early sepsis in children.
Genomenon, Inozyme Collaborate on MDx Effort for ENPP1 Deficiency
The companies hope to deliver AI-powered data to labs and clinicians to diagnose and treat a rare calcification disorder.
Illumina, Israel Ministry of Health to Pilot Genome Sequencing for Diagnosing Critically Ill Infants
Illumina is providing the program with DNA PCR-free library preparation reagents and NovaSeq 6000 sequencing reagents for 125 trios, or 375 total samples.
ACMG Recommends Sequencing as Test for Children With Intellectual Disability, Congenital Anomalies
An American College of Medical Genetics and Genomics working group conducted a systematic review of the literature to develop its recommendation.