Inherited Disease
News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
Revvity Nabs CE-IVD Mark for Molecular Newborn Screening Platform
The firm said its Eonis Q platform is used to identify spinal muscular atrophy and severe combined immunodeficiency with a turnaround time of about three hours.
Pacific Biosciences, GeneDx, Google Health Partner With New York Center for Rare Diseases
A pilot project will perform genomic testing on 50 patient-parent trios to see if PacBio's long-read sequencing can identify genetic alterations.
Genomics England, Oxford Nanopore Partner for Project to Diagnose Unsolved Rare Disease Cases
As part of the project, Eurofins Genomics is contracted to perform whole-genome nanopore sequencing on 7,500 samples from the 100,000 Genomes Project.
Children's Mercy Clinical Validation of Long-Read WGS Assay Sets Stage for Frontline Evaluation
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The so-called "five-base" assay, which includes methylation calls thanks to PacBio's Revio instrument, will be evaluated as a frontline test for critically ill newborns.
Revvity, Sciex Ink Distribution Deal for Mass Spec Newborn Screening
Under the deal, Revvity's reagent kits for newborn screening from dried blood spots will be used with Sciex's mass spectrometry instruments.