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Cordlife Group, a Singapore-based consumer healthcare company, has partnered with US company PlumCare to offer genetic testing services in Asia.
If recommended by the US Department of Health and Human Services, spinal muscular atrophy screening will potentially be adopted on the state level.
The commission includes Shire, Microsoft, and EURODIS Rare Diseases Europe, and will develop a roadmap "to help the rare disease field ... shorten the multiyear diagnostic journey."
Centogene opened a Boston office in December and plans to open a lab there in a few months as it awaits an FDA decision on its clinical tool.
Sebia and Janssen Biotech collaborated on the development of the test, which is for assessing patients treated with Darzalex.
In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer.
The company launched in 2013 as a spinout from Boston Children's Hospital to provide genetic diagnostic tests.
The firm, which specializes in neurogenetics, recently launched several diagnostic RNA sequencing tests and is working on a methylome test for imprinting disorders.
As of this week, the project had sequenced 39,500 genomes and returned reports for about 3,000 rare disease families and more than 600 cancer patients.
Rainbow Genomics will offer exome-sequencing based screening and diagnostic tests developed by Baylor Genetics to patients in Asia.
The multiplexed PCR kit will target mutations associated with cystic fibrosis that are highly prevalent in the US, and the firm is also eyeing the Middle East and Africa.
Despite years of experience of returning genetic test results, clinicians and researchers are still faced with many questions, such as what to do about VUS and secondary findings.
Last week, the company launched whole-genome sequencing of children for customers of its ViaCord cord blood and tissue banking business.
Genome.One's GoNavigate test will analyze the genetic risk for 49 disorders, as well as PGx variants related to more than 220 drugs.
With the new certification in hand, the company plans to expand its business in the US through its Pennsylvania-based subsidiary, B. Braun CeGaT.
A study by researchers in Italy found that preimplantation genetic diagnosis and screening combined led to more successful pregnancies per transfer but fewer women had embryos transferred.
RNA sequencing of patient-derived fibroblasts was able to provide 10 percent of patients with a diagnosis after whole-exome sequencing had failed.
At the European Society of Human Genetics annual meeting in Copenhagen this week, several groups presented studies involving automated facial analysis software.
FDNA's Face2Gene suite analyzes phenotypic data, including facial features, from rare disease patients.
The partners will work together to develop Alexion's SmartPanel precision medicine platform for use in newborns with rare genetic disorders.