Invitae Breast Cancer STAT Panel | GenomeWeb

Invitae Breast Cancer STAT Panel

Jul 20, 2016

Invitae has launched the Breast Cancer STAT Panel, a rapid turnaround gene panel that includes seven genes with surgical and therapeutic relevance: BRCA1, BRCA2, CDH1, PALB2, PTEN, SK11, and TP53. Mutations in these genes may influence patient and physician decisions on mastectomy versus lumpectomy, and whether to prophylactically remove the ovaries and fallopian tubes. Results of the panel can also help guide choice of chemotherapy. Turnaround time is eight to 12 calendar days. Price per indication is the same as Invitae's other tests — $950 for payors and institutions that are in contract with the company, $1,500 for third party payors that are out of network, and $475 for patients without insurance or who do not meet their insurance's criteria for coverage.

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Invitae Exome Test

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 it's unclear which gene or alteration is involved. According to the company, the test analyzes 3-5 mL whole blood (but can alternatively analyze saliva) and uses next-generation sequencing capture technology with boosted coverage of medically relevant genes.

The exome test, with the capability to analyze up to 20,000 protein coding genes, 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-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.

Mar 29, 2017

Genomenon Mastermind Panel Design Service

Genomenon has launched its Mastermind Panel Design Service. The service provides researchers with genes and variants associated with a particular disease by using the company's Mastermind database to mine for disease-gene-variant relationships extracted from primary medical literature, the company said. Using that information, Genomenon researchers can help consumers curate a panel from candidate genes, exons, and variants supported by literature citation.

Mar 29, 2017

GeneNews BreastSentry

GeneNews has launched BreastSentry, a new risk stratification test for breast cancer. The company will offer the test in its Virginia-based clinical reference lab. The test measures the fasting plasma levels of two biomarkers in the blood, proneurotensin and proenkephalin, which are highly predictive of a woman's risk for developing breast cancer, the company said. It is intended for use in average risk women who have no family history of breast cancer, especially for women who have dense breast tissue, to better evaluate when patients may require further screening.

Mar 29, 2017

Empirical Bioscience Agarose Gel Extraction Kit

Empirical Bioscience has launched the Agarose Gel Extraction kit. The kit includes an extraction buffer, activation buffer, washing buffer, elution buffer, spin columns, and collection tubes. It allows efficient DNA purification from agarose gels and provides maximum recovery of DNA from 100bp to 10kb. It also removes primer-dimers, primers, nucleotides, proteins, salt, agarose, ethidium bromide, and other impurities, the company said.

Mar 29, 2017

Cellecta Driver-Map Human Genome-Wide Gene Expression Profiling Kit

Cellecta has launched its Driver-Map Human Genome-Wide Gene Expression Profiling kit. It is a multiplexed RT-PCR-based assay designed to easily provide a molecular "snapshot" of protein-coding genes from complex samples, starting from as little as 10 pg of total RNA. The assay includes a complete set of gene-specific and PCR-NGS primers, buggers, spike-in ERCC, positive control RNAs, and all other reagents required to profile 24 samples, the company said. The kit allows researchers to selectively amplify the 19,000 known annotated human transcripts, use experimentally validated GCA-rich primers for comprehensive view of the spectrum of gene regulation, and have exacting RNA quality control.

Mar 28, 2017

Personal Genome Diagnostics PlasmaSELECT 64

Personal Genome Diagnostics has launched the PlasmaSELECT 64, a targeted panel for pan-cancer tumor profiling that incorporates proprietary technologies and bioinformatics. It is the first liquid biopsy tumor profiling assay to test for microsatellite instability status, a biomarker for tumor mutational load that helps identify cancer patients who might benefit from checkpoint inhibitors and other immuno-oncology cancer therapies. The panel includes 15 unique biomarkers, 11 of which are associated with active clinical trials. The panel is enabled by the company's proprietary DNA extraction and sample preparation methods, which accommodate low-abundance cell-free DNA samples, as well as hybrid-capture processing in combination with high-coverage, next-generation sequencing. The company's proprietary VariantDx computational algorithms enable discrimination of sequencing artifacts and errors from bona-fide mutations.

Mar 28, 2017

SGI-DNA NGS Library Construction Kits

SGI-DNA has launched Next-Generation Sequencing Library Construction Kits for its BioXP 3200 system. The new kits allow scientists to prepare DNA samples for NGS applications on the BioXp 3200, which uses the Gibson assembly method, automating essential steps in reading and writing DNA on a single compact workstation.

Mar 28, 2017

Bruker Avance Neo NMR Research Platform

Bruker has launched its  Avance Neo NMR Research Platform. The next-generation NMR electronics console surpasses the firm's previous Avance III HD, offering even faster control, improved dynamic range, and enhanced flexibility and scalability, Bruker said. New transceiver architecture enables each channel of the Avance Neo to operate as a fully functional spectrometer. According to the company, the new system also allows NMR pulse programs developed on previous Avance platforms, as well as new multi-receive pulse sequencing and experimental design capabilities never before available in the field.

Mar 27, 2017

Bioline JetSeq DNA Quantification Kits

Bioline, a wholly-owned subsidiary of Meridian Bioscience, has launched the JetSeq Library Quantification Kit. The qPCR-based assay provides fast, accurate, and sensitive quantification of adaptor-ligated DNA fragments during the preparation of Illumina-compatible NGS libraries. The kit relies on SYBR Green for detection and contains all of the components required for library quantification, including dilution buffer, P5 and P7 adapter primers, and six pre-diluted DNA standards to minimize pipetting, reduce variability, and increase reproducibility. It has sufficient standards to quantify eighteen libraries on individual plates or up to seventy-six libraries when multiple libraries are quantified on the same plate.

Mar 27, 2017

10X Genomics Chromium Single Cell V(D)J Solution

10X Genomics has launched a high-throughput solution for profiling paired V(D)J transcripts from hundreds to millions of lymphocytes. The solution includes the necessary chemistry and microfluidics consumables, as well as a complete software suite, and it runs on the firm's Chromium Controller or Chromium Single Cell Controller microfluidics platforms. It will be useful to researchers in vaccine development, clonal immune cell dynamics, immune responses to checkpoint blockades, and the development of recombinant antibodies and engineered T cells used in immunotherapies for cancer and other diseases, the firm said. 

Mar 24, 2017

Cepheid Xpert MTB/RIF Ultra

Cepheid, Rutgers New Jersey Medical School and FIND launched the Xpert MTB/RIF Ultra test for diagnosing tuberculosis and resistance to the antibiotic rifampicin. The test is the second generation of Cepheid's Xpert MTB/RIF test, which was launched in 2010. The Ultra was redesigned to increase analytical sensitivity more than tenfold and to improve the detection of mutations associated with rifampin resistance, FIND said.

The World Health Organization recommends the new test be used as an alternative to the older test in all settings, but a WHO expert group also noted that because of the increased sensitivity, use of the Ultra can result in higher numbers of false positives, compared to Expert MTB/RIF. As a result, the group said more discussion is needed on implementing the new test and balancing increased sensitivity with decreased specificity in different settings.

The Ultra was developed by Cepheid in collaboration with Rutgers. Additional support was provided by the US National Institute of Allergy and Infectious Diseases, and FIND. The governments of Australia, the Netherlands, and the UK also provided funding. 

Mar 23, 2017

Seraseq Inherited Cancer DNA Mix Reference Material

SeraCare Life Sciences has launched multiplexed Seraseq Inherited Cancer DNA Mix reference material for inherited disease testing by next-generation sequencing. The mix is focused on seven genes associated with inherited cancer syndromes, including BRCA1 and BRCA2. It combines over 20 pathogenic variants of diverse types in well-characterized genomic background that can be used for assay development and analytical validation, the company said.

Mar 23, 2017

PierianDx Clinical Interpretation Services

PierianDx is launching clinical interpretation as part of its next-generation sequencing services portfolio. Customers will be able to select from a menu of options. Variant scientist review, conducted by PierianDx cancer biologists and genetics professionals, will provide variant classification and annotation. Medical director review, conducted by board-certified molecular pathologists and medical geneticists, will provide assessments of variants' medical significance, including recommended therapeutic options, disease monitoring, clinical trial enrollment, or genetic counseling. Options for direct consultation or participation on molecular tumor boards are also available. Sign-out services, conducted by PierianDx medical directors with the appropriate state licensures, will provide sign-out for cases previously reviewed by interpretation services.

Mar 23, 2017

Optra IPhronesis Knowledge Automation for Clinical Genomics Platform

Optra Health has launched iPhronesis Knowledge Automation for Clinical Genomics. The platform uses advanced natural language processing algorithms and deep machine learning in addition to the iPhronesis Cognitive Workbench to automate literature and data review. It includes data connectors to public databases, such ClinVar, and repositories, such as PubMed and OMIM. It includes an intuitive user interface and simple workflow so consumers can adopt the software quickly and efficiently, the company said.

Mar 23, 2017

Invitae Genetic Health Screen

Invitae has launched its Genetic Health Screen tests, an expansion of its offerings as part of the company's ongoing proactive genetic testing pilot program. The expansion includes additional genes linked to cancer, cardiovascular conditions and other genetic disorders and provides information on 139 medically actionable genes. The company also offers sub-panels focused only on cardiovascular conditions or cancer. The tests are intended for patients who do not meet diagnostic criteria for genetic testing, but who wish to use genetic information to help guide their health decisions, the company said. They can only be ordered by a physician.

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This webinar is the third in a four-part series highlighting real-world examples of how some lab directors are bringing validated next-generation sequencing-based tests to the clinic.

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