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More articles about Inherited Disease

The partners will commercialize Counsyl's Expanded Carrier Screening Test as preconGen, beginning in Spain, Italy, Portugal, Switzerland, and Colombia.

Sequencing the genomes of newborns is still a contentious undertaking with technical and ethical hurdles, although for sick infants, it has been successful. 

The Israeli startup is establishing a global digital marketplace to facilitate genetic testing services.

PerkinElmer may be nearing an FDA submission for a panel based on technology from the University of Washington, amid a push for state-mandated screening programs.

Under the collaboration, Asuragen will develop diagnostic kits for analyzing repeat sequences using Thermo Fisher's 3500 Dx Series Genetic Analyzer CS2 instrument.

Marshall Summar

The new institute plans to use structured clinical information to inform targeted testing in order to cut down the time to diagnosis.

Under a five-year NIH grant, the researchers will evaluate whether earlier diagnosis of fragile X and SMA leads to earlier intervention and improved outcomes.

In a case study, the researchers used PacBio's Sequel instrument to identify a pathogenic deletion that had been missed by short-read sequencing technology.

In a recent study, researchers led by the NHGRI showed that the software could accurately diagnose Down syndrome in patients of different ethnic background.

The partners will work to offer panel-based genetic characterization for a US-based cohort.

The researchers, led by VIB and Ghent University in Belgium, hope to complete a validation study within a year.

The company has installed Illumina's HiSeq X sequencing platform and expects to sequence 20,000 genomes by the end of next year.

Invitae will test 1,000 breast cancer patients from TME practices using its hereditary cancer test, regardless of whether they meet current eligibility criteria.

Under the agreement, Roche Diagnostics will offer Good Start's GeneVu carrier screening test along with its Harmony NIPT.

The new assay, called the CellMax-DNA Genetic Cancer Risk Test, will complement CellMax Life's planned slate of liquid biopsy assays for early cancer detection.

The firm reported $6.3 million in third quarter revenues compared to $2.2 million in the year ago period, but fell short of the consensus Wall Street estimate of $7.5 million.

Under the partnership, Myriad will be ION's preferred partner for providing hereditary testing to its member practices. 

The first apps will be for individuals at low risk for inherited forms of cancer and heart disease, and will require a doctor's permission.


A Counsyl study suggests that just half of individuals go through with insurance-mandated pretest genetic counseling, paying out of pocket or canceling the test instead.

The company, which is part of Opko Health's BioReference Laboratories, recently hired a new managing director, who plans to expand the firm's market and testing portfolio.

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