Article
[Genetic testing for cystic fibrosis: evaluation of the Elucigene CF20 kit in blood and buccal cells].
Annales de biologie clinique - 1 Jan 2000
Feldmann D, Guittard C, Georges M D, Houdayer C, Magnier C, Claustres M, Couderc R
Abstract excerpt
Routine determination of mutations in cystic fibrosis requires accurate, rapid, reliable and low-cost methods, permitting the simultaneous detection of multiple mutations. The Elucigene CF20 kit developped by Cellmark Diagnostics, uses multiplex ARMS, which allows the screening for 20 CFTR gene mutations (deltaF508, G542X, N1303K, 1717-1G>A, G551D, W1282X, R553X, deltaI507, 1078delT, 2183AA>G, 3849+10kbC>T,...
Topics
- Amino Acid Substitution
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Genetic Testing
- Humans
- Laboratories
- Mouth Mucosa
- Mutation
- Reagent Kits, Diagnostic
- Reproducibility of Results
- Sequence Deletion
- White People