Illumina has received premarket clearance on its MiSeqDx system, the MiSeqDx Cystic Fibrosis 139-Variant Assay, MiSeqDx Cystic Fibrosis Clinical Sequencing Assay, and the MiSeqDx Universal Kit.
The Cystic Fibrosis 139-Variant Assay screens for disease causing mutations in the cystic fibrosis transmembrane conductance regulator gene, including all of the ones recommended for carrier screening by the American College of Medical Genetics and Genomics and the American College of Obstetricians and Gynecologists. The Cystic Fibrosis Clinical Sequencing Assay assesses the entire protein coding region and the intron/exon boundaries of the CFTR gene. The Universal Kit provides the reagents necessary for laboratories to develop their own amplicon-based diagnostic assays on the MiSeqDx.
Syapse has launched Syapse for Labs, clinical reporting software that enables molecular profiling test reports to be generated and delivered to physicians via an interactive web portal. The software manages patient clinical information, omics data, and supporting laboratory data. Reports are generated using a configurable rules engine, which updates reports as evidence in the knowledge base evolves.