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Jan 19, 2007

Quest Diagnostics to Develop Screening Method for Fragile X Syndrome

  • Quest Diagnostics obtained rights to develop an advanced screening method for fragile X syndrome (FXS) based on a genetic testing technology developed by the company along with U.S. Genomics'.

    "We feel the U.S. Genomics' technology will enable us to create an accurate, efficient screening test for FXS and other common causes of inherited mental impairment," states Joyce G. Schwartz, M.D., vp and chief laboratory officer, Quest Diagnostics.

    Quest Diagnostics says it will develop the new test to address and resolve the limitations of current FXS screening. Physicians currently use two types of DNA testing to screen for FXS. Though the tests are highly accurate, they involve a number of steps over the course of several days as well as a high level of technical expertise. Such tests, according to the company, makes testing cumbersome and impractical for prenatal and pregnancy screening programs.

    Quest Diagnostics plans to develop an automated testing process that it believes will result in a simpler, more efficient test that allows physicians to have access to widespread population-based carrier testing. The new test also should help physicians, including pediatricians, neurologists and obstetrician-gynecologists, to more efficiently screen patients with mental, neurological, or endocrine symptoms that may be caused by a fragile X gene mutation.


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