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

Company's Scientists also Enhance Industry Standards for Quality Screening in Three Articles Published in The Journal of Molecular Diagnostics

MADISON, N.J., April 27 /PRNewswire-FirstCall/ -- Quest Diagnostics scientists provide new insights into genetic factors affecting the accuracy and quality of Cystic Fibrosis (CF) carrier and newborn screening in three separate articles published in the May 2009 issue of The Journal of Molecular Diagnostics. Quest Diagnostics Incorporated (NYSE: DGX) is the world's leading provider of diagnostic testing, information and services.

The research may enhance the accuracy of carrier and newborn screening for CF, a genetically inherited disease that damages the respiratory and gastrointestinal systems. One in 29 Americans of Northern European Caucasian or Ashkenazi Jewish descent are symptomless carriers of the defective, or mutated, cystic fibrosis transmembrane regulator (CFTR) gene. A child whose parents are both carriers has a one in four chance of developing the disease.

"Taken together, these three papers demonstrate how the widespread and thoughtful experience with [cystic fibrosis] mutation testing and screening continues to reveal new insights about the mutational alleles of the CFTR gene and further refinements in how best to detect them and assure appropriate quality control while doing so," said Wayne W. Grody, M.D., Ph.D., professor in the Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. Dr. Grody, who wrote the commentary "Cystic Fibrosis Testing Comes of Age(1)" in the journal's May issue, is not affiliated with the studies.

"Since the CFTR gene was discovered two decades ago this year, scientists have acquired significant insights into the genetics of CF, one of t
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SOURCE Quest Diagnostics
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