Multiplex genotyping for cystic fibrosis from filter paper blood spots

Abstract

Cystic fibrosis is a common disease of the Caucasian population and is associated with significant early mortality. We present a simple and rapid method for cystic fibrosis genotyping from filter paper blood spots, using a currently available commercial genotyping kit. Using multiplex technology, genotype information on the four most common UK mutations can easily be obtained within a single working day. Used in conjunction with current immunoreactive trypsinogen screening protocols, blood spot genotyping offers a method of hastening the diagnosis, and thus treatment, of cystic fibrosis.