The CFcheck DE-31 Kit detects the 31 CF mutations that are for example recommended for German newborn screening corresponding to enactment of GBA published in August 2015.Detektierte Mutationen im CFTR-Gen:
•Del ex2-3•G85E•E60X•621+1G>T•E92X•R334W•R347P•1078delT•I336K •A455E •1677delTA •F508del •I507del •R553X•G542X •G551D•1717-1G>A •2143delT •2183AA>G •2184delA •2184insA•2789+5G>A •3272-26A>G •M1101K •Y1092X •3849+10kbC>T •3659delC •R1162X •W1282X •3905insT •N1303K
CFcheck DE-31 applied as newborn screening
Analysis of CF during newbornscreening including genetic test of CFTR gene reduces the risk of delayed diagnostics that comes along with irreversible damages of tissue and loss of expectation of life.
The molecular genetic CFcheck kit of Astra Biotech combines high sensitivity with easy handling and velocity.