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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.
Asuragen's technology will be used in the Early Check study to identify children with rare health conditions, such as fragile X syndrome, before symptoms appear.
The National Institutes of Health Commercial Accelerator Program helps small healthcare and life science companies bring their products to market.
Rady Children's will provide rapid WGS as a first-line diagnostic test for newborns in the intensive care unit at four participating hospitals in California.
A review of Myriad Genetics' results over 10 years revealed that a significant proportion of variant calls were reclassified at some point.
The lab created active molecular identification tags to be able to track specimens themselves, rather than just their containers.
To nudge genetic testing labs to share their variant data, MGH now requires that labs to which it sends tests to contribute variants to the ClinVar database.
A randomized clinical trial from France revealed similar miscarriage rates in women who had cell-free DNA screening for trisomy 21 prior to invasive testing.
The startup's first test focuses on diagnosing 60 conditions for which treatment is available.