New SequencingTest for Cystic Fibrosis

A new test for cystic fibrosis (CF) enables doctors to identify rare mutations that cause CF by sequencing the complete coding sequence of the cystic fibrosis gene. The test was introduced at the annual meeting of The American Society of Human Genetics in Baltimore (MD, USA).

The test, called CF Complete, identifies more than 1,000 distinct mutations and provides more information than traditional CF screening tests to help doctors diagnose and treat patients with a family history or clinical symptoms of cystic fibrosis. The test is particularly useful for gynecologists and geneticists who treat high-risk patients, and it provides genetic counselors with enhanced information for use in counseling patients.

"The CF Complete test will help experts address difficult clinical cases and provide carrier detection and prenatal diagnosis for CF families with previously unidentified cystic fibrosis mutations,” said Lucia L. Quinn, senior vice president, advanced diagnostics, Quest Diagnostics. The test was developed by Quest Diagnostics' Nichols Institute (San Juan Capistrano, CA, USA). Quest Diagnostics also offers screening tests for cystic fibrosis, which analyze patients' blood samples for all 25 mutations that are contained in a 2001 recommendation by the American College of Obstetricians and Gynecologists.




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