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Quest Dx to Use US Genomics' Tech for Prenatal Fragile X Syndrome Screening

NEW YORK (GenomeWeb News) - US Genomics and Quest Diagnostics have signed a worldwide licensing agreement that gives Quest rights to develop a screening method for fragile X syndrome, Quest said Friday.
Under the terms of the agreement, Quest said it will use US Genomics' genetic testing applications to develop an automated test that will enable "widespread population-based carrier testing" that will resolve inadequacies of current screening methods. Quest said that current DNA screening tests for FXS are "highly accurate," but too complex for screening large populations. 
US Genomics' John Canepa said this technology will potentially enable screening of "all 4.2 million pregnancies in the United States each year."
Fragile X syndrome, the most common form of inherited mental retardation, is caused by a genetic mutation on the X chromosome. In males, FXS can lead to severe mental retardation, speech disorders, ADHD, some features of autism, and physical features such as a large head, long face, and protruding ears.
Females are less affected by FXS, Quest said, and present with milder retardation, less behavioral and cognitive impairment, and are less likely to develop the physical characteristics as expressed in males.
In the US, about 37,200 males are affected with FXS, and about 62,500 females carry the FXS mutation, Quest said.

The Scan

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Right Whales' Decline

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Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.