Invitae Boosted Exome Sequencing and Interpretation Service

Mar 30, 2017

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.

More Like This

Feb 20, 2018

Beckman Coulter Diagnostics, NTE-Sener DxM 6100 Autoplak Advanced System

Beckman Coulter Diagnostics and NTE-Sener have partnered to launch the DxM 6100 Autoplak Advanced automated plate streaking system in Europe. The platform automates and integrates the core aspects of microbiology specimen testing, Beckman Coulter said, and streamlines routine tasks. As a result, laboratories can manage increasing testing volumes by allowing them to reallocate technical resources as needed. Beckman Coulter and NTE-Sener, which is part of the Sener group, originally signed a deal in June to make Beckman Coulter the sole distributor of the DxM 6100 Autoplak Advanced System in most European countries.

Feb 13, 2018

SeraCare Seraseq Breast CNV; Lung and Brain CNV Mix

SeraCare Life Sciences launched the Seraseq Breast CNV and Seraseq Lung and Brain CNV Mix, reference materials for analyzing copy number variation. Both have been built with biosynthetic technology that can be easily scalable to incorporate new CNVs over time, and were developed so that clinical labs conducting NGS-based tumor profiling for cancer can better understand and characterize their assays, SeraCare said. They were precisely quantified using highly sensitive digital PCR assays to analyze amplification of EGFR, MET, FGFR3, MYC, ERBB2, and MYCN genes at +3, +6, and +12 copies against a single well-characterized genomic background, the company said.

Feb 09, 2018

Sema4 Natalis

Sema4 has launched Natalis, a supplemental newborn screening test designed to detect 193 childhood-onset diseases or disorders. In the US, newborns are typically screened for 34 health conditions on the recommended uniform screening panel, but the conditions vary by state and represent only a fraction of the genetic diseases that can manifest in a child's first decade, Sema4 noted. As a supplemental test, Natalis screens for more than five times the number of genetic diseases than a state's standard hospital test, the company said. Every Sema4 Natalis order also includes a pharmacogenetic analysis of how a baby is likely to respond to 38 medications commonly prescribed at an early age. The test uses DNA sequencing analysis, and sample collection can be performed at home with a cheek swab, the company said.

Feb 06, 2018

Laboratorio Noy Oncocyst PD-L1

Laboratorio Noy launched the Oncocyst PD-L1 test, which uses IncellDx technology to quantify the percentage of abnormal bladder cells and immune cells from urine cytology samples expressing PD-L1. The assay also detects aneuploidy in cells from the bladder. The high-throughput assay is non-subjective and can be performed in less than three hours, Laboratorio Noy said. 

Feb 06, 2018

Personalis ImmunogenomicsID and NeoantigenID

Personalis has launched ImmunogenomicsID, which combines DNA and RNA sequencing data to generate an immunogenomic profile of a tumor and its microenvironment. The product is designed to help identify biomarkers and signatures that can impact patient response to cancer immunotherapies. It is a new component and extension of the company's existing ACE ImmunoID Platform, which combines genome-scale sequencing with data analytics for broad tumor immunogenomic characterization.  

The company also announced the latest release of NeoantigenID, a component of the ACE ImmunoID platform. ACE ImmunoID, which uses Personalis' patented ACE technology, combines augmented exome and transcriptome sequencing with analytics to enable broad tumor immunogenomic characterization. This newest release of NeoantigenID not only identifies candidate neoantigens derived from single nucleotide variants, but now also includes putative neoantigens derived from insertion and deletion mutations and gene fusions, for both MHC Class I and Class II, the company said. The new analytics integrate DNA and RNA sequencing data to calculate neoantigen load, expression of genes, and expression of variants, while incorporating phasing information to improve the accuracy of neoantigen prediction.

Feb 02, 2018

Lucence Diagnostics Plasma EGFR C797S Mutation Detection Assay

Lucence Diagnostics has launched its plasma EGFR C797S non-invasive mutation detection assay for clinical use in Southeast Asia. The assay is based on Lucence's proprietary Lumi-ARMS technology, and rapidly detects the presence of the EGFR C797S mutation which is linked with osimertinib resistance in EGFR-mutant non-small cell lung cancer. The assay can be used with blood and cerebrospinal fluid and features a sensitivity of up to 0.01 percent, the company said. The assay is also currently available as part of the Lucence LiquidTrack test offered through the company's reference laboratory in Singapore.

Feb 01, 2018

OpGen Acuitas Gene Panel u.547 Test

OpGen has announced today the commercial availability of its Acuitas AMR Gene Panel u5.47 test. The research-use-only test was developed to detect the most common bacterial causes of complicated urinary tract infections from urine and isolated colonies. The gene panel also detects 47 gene targets that indicate antibiotic resistance. Test results are typically available in less than three hours compared to traditional microbiology methods, which require two to three days to produce results. 

Jan 30, 2018

PerkinElmer GSP Neonatal Creatine Kinase – MM (CK-MM) kit

PerkinElmer launched the GSP Neonatal Creatine Kinase –MM (CK-MM) kit, a screening kit for Duchenne muscular dystrophy, which is a progressive X-chromosome linked neuromuscular disorder with a worldwide average incidence rate of approximately 1 in 5,000 male live births. The kit is an immunoassay for measuring CK-MM in newborn babies' dried blood spot samples. The company says the assay is the first commercially available in-vitro diagnostic kit for newborn screening of Duchenne muscular dystrophy. Previously the only available alternative for biochemical assessment of CK levels in dried blood spot samples for newborn screening consisted of non-standardized lab developed tests based on CK enzyme activity measurement, according to the company.

Jan 26, 2018

Sciex Diagnostics Citrine Triple Quad MS/MS, Citrine QTrap MS/MS systems

Sciex Diagnostics launched the Citrine Triple Quad MS/MS and Citrine QTrap MS/MS systems for clinical diagnostics. The Citrine platform was designed for clinical labs that need maximum sensitiviity, high-throughput, a wide dynamic range, and the ability to use a simplified sample preparation, Sciex said. It added that the system offers electrospray ionization and atmospheric ionization options, an extended mass range up to m/z 2,000, and a wide linear dynamic range. 

Jan 24, 2018

Sophia Genetics AI

Sophia Genetics said this week that its Sophia AI platform now has radiomics capabilities, which will be combined with the technology's existing genomic analysis capabilties. The new capabilities are based on mechanistic and mathematical modelling and help to predict the evolution of a tumor (size, volume, and location) by analyzing quantitative image features from two or more consecutive standard-of-care medical images (i.e. PET-scans, MRIs, x-rays and more). Clinical proofs of concept have already been executed on hundreds of patients' cases for lung, kidney, glioma, and meningioma, and the technology should soon be applied to any solid tumor, the company said.

Jan 22, 2018

Enzo Biochem p16

Enzo Biochem launched its p16 cervical cancer biomarker detection test. The test, the firm said, is the latest addition to its immunohistochemistry pipeline, which includes Ki-67, HER2, and p53. The validated p16 test allows for the detection of tissue abnormalities in cancer, including cervical cancer, and it complements Enzo Biochem's Polyview line of immunohistochemistry detection products, the company said. 

Jan 17, 2018

PerkinElmer NeoBase 2 non-derivatized MSMS Kit

PerkinElmer has launched its NeoBase 2 non-derivatized MSMS Kit, which received CE marking early last month. The IVD kit is intended for the semiquantitative measurement and evaluation of amino acid, succinylacetone, free carnitine, acylcarnitine, nucleoside, and lysophospholipid concentrations. It is for analzying newborn heel prick samples dried on filter paper and is used with a tandem mass spectrometer. The kit can be used to test up to 57 analytes, including markers for screening X-linked adrenoleukodystrophy, as well as adenosine deaminase severe combined immunodeficiency. 

Jan 17, 2018

Cancer Genetics Complete::IO Immuno-Oncology Panel

Cancer Genetics has expanded its immuno-oncology panel, Complete::IO, to include five new markers, bringing the total to 27. The test is a multi-marker panel for characterization of the immune repertoire of cancer patients, including circulating immune cell populations and the tumor microenvironment.

The assay is designed to help identify patients who are likely to respond to specific therapies, as well as to monitor and stratify patient populations during clinical trials. The five new markers now allow the test to detect myeloid-derived suppressor cells, as well as those that express PD-1, PD-L1, or PD-L2.

Jan 12, 2018

Castle Biosciences DecisionDx-UMSeq Panel

Castle Biosciences has launched the DecisionDx-UMSeq panel, which uses next-generation sequencing to identify somatic mutations in genes relevant to uveal melanoma. The panel will evaluate DNA mutations in seven genes known to be relevant to UM: GNAQ, GNA11, PLCB4, CYSLTR2, SF3B1, exons 1-2 of EIF1AX, and coding exons of BAP1. While no currently available therapies target pathways affected by the gene mutations evaluated in the panel, the genomic information may be useful in the future to inform patient care as UM research and therapeutic options evolve, the company noted. The assay will complement Castle's DecisionDx-UM gene expression profile test for assessing likelihood of metastasis in UM.

Jan 10, 2018

Thermo Fisher Scientific Ion Torrent Oncomine Pan-Cancer Cell-Free and Tumor Mutation Load Assays

Thermo Fisher Scientific has launched two new Oncomine assays. The Ion Torrent Oncomine Pan-Cancer Cell-Free Assay is designed for the analysis of tumor DNA and RNA for all major classes of mutations. The assay, which targets more than 50 genes across multiple tumor types, including lung, colorectal, breast, pancreatic, and thyroid cancer, requires a single vial of blood and as little as 1 nanogram of nucleic acid input material and can be completed in two days. The Ion Torrent Oncomine Mutation Load Assay sequences 409 genes using as little as 20 nanograms of DNA from formalin-fixed paraffin-embedded tissue. It is designed to improve selection strategies for immunoherapy clinical trials.

Feb
22
Sponsored by
SeraCare

This webinar will walk through key considerations and helpful guidelines to accelerate next-generation sequencing (NGS)-based clinical genomics assay validation for less money and greater confidence in results.

Feb
27

In this webinar, Jill Viles, an Iowa mother with no clinical training, shares her story of how she self-diagnosed her rare condition, a muscle-wasting disease caused by a mutation in the LMNA gene. She will also discuss how she discovered that a mutation in the same gene is the underlying cause for the excess muscle phenotype exhibited by Canadian Olympic hurdler Priscilla Lopes-Schliep. 

Mar
08
Sponsored by
Swift Biosciences

This webinar will discuss an optimized protocol for methyl-CpG binding domain sequencing (MBD-seq), which enables comprehensive, adequately powered, and cost-effective large-scale methylome-wide association studies (MWAS) of almost all 28 million CpG sites in the genome.

Mar
13

This webinar will share how clinical genetics labs can integrate cytogenetics and molecular data to assess abnormalities using a single sample on a single workflow platform.