Article
Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel.
The Journal of molecular diagnostics : JMD - 1 Jul 2006
Strom Charles M, Janeszco Richard, Quan Franklin, Wang Sheng-biao, Buller Arlene, McGinniss Matthew, Sun Weimin
Abstract excerpt
The American College of Medical Genetics (ACMG) and the American College of Obstetrics and Gynecology have recommended population-based carrier screening for cystic fibrosis to include 23 mutations and 5 polymorphisms in the cystic fibrosis transmembrane regulator gene(CFTR). We estimate 20% of all pregnant women are being tested for their CF carrier status. We assessed two commercially available analyte-specific...
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