Article
Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting.
Clinical chemistry - 1 May 2004
Strom Charles M, Clark David D, Hantash Feras M, Rea Larry, Anderson Ben, Maul Diana, Huang Donghui, Traul Donald, Chen Tubman Christina, Garcia Renee, Hess P Patrick, Wang Hong, Crossley Beryl, Woodruff Evelyn, Chen Rebecca, Killeen Myra, Sun Weimin, Beer Jonathan, Avens Heather, Polisky Barry, Jenison Robert D
Abstract excerpt
BACKGROUND: The recommendation for population- based cystic fibrosis (CF) carrier screening by the American College of Medical Genetics for the 25 most prevalent mutations and 6 polymorphisms in the CF transmembrane regulatory gene has greatly increased clinical laboratory test volumes. We describe the development and technical validation of a DNA chip in a 96-well format to allow for high-throughput genotype...
Topics
- Autoanalysis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Probes
- Genetic Testing
- Genotype
- Humans
- Mutation
- Oligonucleotide Array Sequence Analysis
- Polymorphism, Single Nucleotide