carrier screening | GenomeWeb

carrier screening

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

Couples can now buy cystic fibrosis and spinal muscular atrophy carrier screening tests through Amazon, though a doctor will have to approve the order. 

Participants of the National Society of Genetic Counselors annual education conference highlighted the need for consensus guidelines for screening potential gamete donors. 

Cystic fibrosis carrier status often did not impact family planning decisions and was sometimes perceived as a risk to unaffected family members.

The study adds to a growing body of evidence suggesting that expanded carrier screening tests can better identify at-risk couples. 

The test was previously approved to detect and differentiate carbapenemase genes from bacterial isolates, and now has an expanded claim for testing directly from rectal swabs. 

Researchers are studying the impacts of implementing multi-gene preconception carrier screening in the Netherlands, where such testing has been prohibited. 

Genetic testing firm GenePeeks found discrepancies between carrier screening tests, although those firms found fault with its variant classification methods. 

The firm's CEO Ramji Srinivasan said the layoffs would help focus the company on developing relationships with clinicians and medical providers.

The study will evaluate GenePeeks' computational approach to assess reproductive risk compared to standard carrier screening in couples hoping to conceive a child.

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In Science this week: genetic target for urothelial bladder cancer treatment, and more.

At the Conversation, the University of Oxford's Michael Macklay writes that learning genetic risk of disease is a personal decision.

Two dozen scientific organizations have endorsed the March for Science, according to ScienceInsider.

Researchers in Japan describe a chimpanzee with a chromosomal abnormality similar to human Down syndrome, Mashable reports.