qSeq easy® CFTR consists of the complete sequencing (exons, intronic regions, exon-intron boundaries, etc.) and analysis of the CFTR gene responsible for cystic fibrosis using NGS.
Mutations in the gene encoding for the transmembrane conductance regulator(CFTR / ABBCC7; MIM # 602412) cause an abnormal transport of chloride ions (Cl-) through the membranes of epithelial cells in cystic fibrosis patients, affecting multiple organs, e.g. lung, pancreas, sweat glands and vas deferens (in male patients), among others.
Mutations in CFTR are responsible for serious diseases, such as chronic idiopathic pancreatitis (MIM # 167800), bronchiectasis (MIM # 211400) or cystic fibrosis (FQ, MIM # 219700), which shows high prevalence in caucasian population, with carrier frequencies of carriers of up to 1 in 20.
At qGenomics we are pioneers in the use of new technologies for the molecular study of the complete gene. In collaboration with a team of tear one geneticists and scientists (Dr. Teresa Casals – IDIBELL and Dr. Xavier Estivill – CRG), we have developed and tested  a method based on NGS technology for the complete analysis (exons, introns and regulatory regions), uniform and without bias, of the CFTR gene in one single experiment, saving time and resources. This assay allows for the identification of any type of mutation present in any location of CFTR with high reliability.
Although the CFTR gene was discovered more than 20 years ago, its genetic analysis is complex due to the high diversity of alleles and mutations (> 1,900 today). Although the most prevalent mutations explain a very high percentage of cases, in many cases it is necessary to sequence the entire gene to find second mutations that may cause specific phenotypes associated with CFTR. The identification of the causative mutations of the disease is essential for effective case management and adequate genetic counseling for responsible family planning, or to determine the risk for other family members.
1. Trujillano et al, J Med Genet, online First: 17/05/2013.DOI:10.1136/jmedgenet-2013-101602.
Turn-around time: 20 working days from sample reception.