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Quest Diagnostics Discovers New Genetic Mutations Affecting Cystic Fibrosis Screening
Date:4/27/2009

e in order to identify rare genetic variants that are potential sources of testing error. The investigators, led by Victoria Pratt, Ph.D., FACMG, chief director, Molecular Genetics, Quest Diagnostics Nichols Institute, identified eleven instances of "allele drop-out," or failure to detect a targeted mutation, for an aberrancy rate of less than 0.01%. "We concluded that the recognition and enumeration of such variants along with clinical information in CF testing is valuable in avoiding false-positive and false-negative results," Dr. Pratt said.

In addition, Quest Diagnostics, participated in a study coordinated by the Centers for Disease Control and Prevention's Genetic Testing Reference Material Coordination (GeT-RM) to develop a set of genomic DNA reference materials for CF mutations not currently included in a 23-mutation test panel recommended for carrier screening by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG). These additional mutations are currently offered in half of the nearly dozen commercially available test panels on the CF testing market, which has grown significantly since ACMG/ACOG made their first CFTR mutation screening recommendation in 2001.

"Accurate characterization of CF mutations is essential to promoting uniform standards and quality screening. Yet, the surge in CF testing demand caused by ACMG/ACOG's promotion of broader population screening has outpaced scientific efforts to characterize several mutations commonly found on test panels used in clinical practice and research," said Dr. Pratt, investigator of "Development of genomic reference materials for cystic fibrosis testing.(4)" "The establishment of genomic DNA reference materials will promote CF testing accuracy across the U.S. lab industry and may be expected to advance CF research and development."

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