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The testing programs are financially supported by the drugmakers, and will allow Invitae to provide free testing and genetic counseling for rare inherited retinal disease and primary immunodeficiencies.
Invitae will perform genetic testing using a 58-gene panel and Horizon will provide financial support for the program aimed at improving diagnosis of the rare condition.
The study aims to enroll 10,000 Floridians to have their exomes screened for variants indicative of familial hypercholesterolemia risk.
Researchers plan to compare rapid whole-genome sequencing with standard diagnostic methods in 200 critically ill newborns.
The new assay is part of the company's prenatal and women's health offerings, but it is also developing a preeclampsia test and technology for gastrointestinal testing.
Orto+ will be market and distribute Todos' TM-B2 test for breast cancer screening in Romania and Austria. The test is CE marked.
A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.
The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.
The company will use the money to launch its first product, Unity, a noninvasive prenatal test for recessively inherited single-gene disorders.
The addition of the Y chromosome detection will enable the firm to refine its already-approved MaternalFetalScreen T1 test to provide personalized risk assessment.
Under a proposed decision, to be finalized in August and become effective in late 2020, NIPT would only be covered for women with particular fetal trisomy risks.
The companies will develop an IVD system based on the MiniSeq initially to diagnose hereditary kidney disease.
The consortium plans to develop recommendations on the best practices for implementing clinical whole-genome sequencing for rare genetic disease diagnosis.
The team plans to launch an RNA-seq diagnostic test out of the SickKids clinical laboratory in one year to complement clinical exome sequencing.
The authors of CAP's practical framework for NGS testing of inherited disorders see it as a baseline for future efforts to standardize NGS testing.
The clearance enables 23andMe to report on the two most common variations in the MUTYH gene influencing MAP, which increases risk of CRC development.
The acquisition is expected to enhance Health Network Laboratories’ inherited genetic disorders diagnostic services offerings.
The firm's assay measures the concentration of the wild type and mutant alleles of hFE protein at three different mutation sites from a person's blood sample.
The disease is an inherited form of muscular dystrophy characterized by a repeat expansion of 50 CTG trinucleotides or greater in the DMPK gene.
Through the Alnylam Act program, patients suspected of having the rare disease or with a family history of the illness will receive testing at no cost.