Swift Biosciences Accel Amplicon CFTR Panel and Accel-NGS XL Library Prep Kit
Swift Biosciences has launched the Accel Amplicon CFTR panel and the Accel-NGS XL Library Prep kit. The CFTR panel detects a wide range of variants and mutants in all exonic and select intronic regions of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. It produces sequence libraries in two hours, allows the user to process three to four times more libraries per day, and requires as little as 10 nanograms of sample input from either whole blood, dried blood spots, saliva, or buccal swabs. The Library Prep kit optimizes library preparation, particularly for the PacBio's Single Molecule, Real Time SMRT sequencing. The kit provides longer sequencing reads with a single-tube workflow.
NanoString nCounter Enhancement Kits and Gene Expression Panels
NanoString has launched a new nCounter mRNA amplification kit, a universal cell capture kit, and two new nCounter assays. The nCounter Low RNA Input Kit employs multiplexed target enrichment to linearly amplify mRNA transcripts, enabling gene expression analysis with 1 nanogram to 10 nanograms of sample inputs. The kit is compatible with both pre-defined and custom panels. The Intracellular Compatible Universal Cell Capture Kit enables researchers to use the nCounter Vantage RNA:Protein Immune Cell Signaling Assay with as few as 20,000 cells. NanoString is also releasing two new assays. The RNA MAPK-PI3K Pathways panel provides a curated gene set to measure transcriptional activity of those pathways. The firm is also offering a gene expression panel for myeloid cell innate immune response in humans or mice, developed in partnership with Lisa Coussens of Oregon Health and Sciences University.
Invitae Boosted Exome Sequencing and Interpretation Service
Invitae has launched an exome sequencing and interpretation service, called the Boosted Exome. Invitae believes this testing will be particularly useful in diagnosing rare pediatric diseases or providing insights into complex cases where doctors suspect a genetic disease but don't know which gene or alteration is involved. According to the company, the test analyzes 3 mL to 5 mL of whole blood (but can alternatively analyze saliva) and uses next-generation sequencing capture technology with boosted coverage of medically relevant genes. The exome test has the capability to analyze up to 20,000 protein coding genes, and also uses custom bioinformatics solutions for variant analysis, a phenotyping tool to prioritize relevant genes for analysis, and analytical solutions to identify other genes through inheritance patterns or functional impact. The data are interpreted by board-certified geneticists, and results are returned within six weeks to eight weeks. Parents have access to genetic counseling and doctors can confer with clinical consultants. Proband-only exome testing costs $2,500, while additional testing of one or both biological parents brings the cost up to $4,500.
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