The Cystic fibrosis microarray is intended for the rapid simultaneous detection of 25 of the most common CF-causing mutations in pan-European populations. In addition to the mutations for Cystic fibrosis most commonly found in Western European populations, the mutation panel of CFTR test is extended by nine mutations most frequently found in Eastern European ethnic groups.Mutations detected by Cystic fibrosis microarray:
• Dele 2, 3 • G85E • 621+1G>T • R334W • R347P • R347H • 1078delT • I507del • F508del • R1162X • S1196X • 3732delA • 3821delT • 3849+10kbC>T • W1282X • N1303K • 1677delTA • G542X • G551D • R553X • 1717-1G>A • 2143delT • 2184insA • 2183AA>G • 2789+5G>A
At the Department of Paediatrics and the Institute for Clinical Chemistry and Laboratory Medicine of the University Hospital Carl Gustav Carus in Dresden a successful study CFcheck EU-25 was conducted. The results of the study were presented at the poster exhibition of the 38th European Cystic Fibrosis Conference organized by European Cystic Fibrosis Society. The conference took place in Brussels, Belgium (10-13 June, 2015).