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

he most common autosomal recessive genetic disorders," said Charles (Buck) Strom, M.D., Ph.D., medical director of the genetic testing center of Quest Diagnostics Nichols Institute, the esoteric research, development and testing services operation of Quest Diagnostics. "As the world's leading provider of genetic testing for cystic fibrosis, Quest Diagnostics has been at the forefront of efforts to advance scientific understanding of the disease and promote testing quality across the laboratory industry. These efforts are noteworthy because insights into the more than 1,500 mutations affecting the CFTR gene are enhancing the medical understanding of cystic fibrosis as well as the mechanisms of other genetic diseases."

In "Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion,(2)" Strom and his colleagues at Quest Diagnostics present a patient with classic cystic fibrosis who exhibits previously undescribed (novel) mutations that include deletions, or the absence, of large parts of the CFTR gene. The investigators demonstrate that conventional screening techniques may not accurately identify both defective CFTR genes in patients who have inherited CFTR genes with large deletions. "The failure to identify these CFTR mutations in carriers could increase the potential that their family members are falsely identified as non-carriers," said Dr. Strom, lead investigator of the study. "Comprehensive mutation analysis using DNA sequencing and exon deletions/duplications is therefore important to resolve apparent homozygosity (the false appearance that the patient inherited the same mutations from each parent) for novel and rare mutations, some of which are currently found in recommended testing panels."

In "Identification of cystic fibrosis (CF) variants by PCR/oligonucleotide ligation (OLA) assay,(3)" Quest Diagnostics' scientists analyzed one million specimens in the Quest Diagnostics databas
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