We introduce to you our comprehensive and fast solution for the analysis of the CFTR gene.
Cystic fibrosis is an inherited disorder affecting the lungs, digestive system and other organs in the body caused by mutations in CFTR gene. Our user friendly fastGEN CFTR kit offers a simple and fast analysis of the CFTR gene for early recognition of cystic fibrosis.
Cystic fibrosis (CF) is a multisystem disease with autosomal recessive inheritance, affecting the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF mainly affects the lungs and pancreas, but also the upper airways, liver, intestine, and reproductive organs. Currently, more than 2000 germline sequence variants of the CFTR gene have already been identified, though not all result in CF.[2] [3] [4] A huge number of CFTR variants are with unknown clinical significance, some variants are involved in single organ disorders and a small number of variants are associated with a broad phenotypic spectrum. [2]
It was assumed that cystic fibrosis affects exclusively Caucasians of European descent, and there- fore only prevalent in Europe, North America, and Australasia. Based on today's studies, we know that cystic fibrosis also occurs in other regions such as the Middle East, Asia, and Latin America. Worldwide, 162 428 people are estimated to be living with cystic fibrosis. 105 352 cases of cystic fibrosis are diagnosed. 57 076 patients are undiagnosed. [1]
BioVendor Group fastGEN: A breakthrough system for one-step NGS library
According to the Cystic fibrosis foundation, a child born in 2019 is predicted to live 48 years or more, whereas in 1995–1999 patients were predicted to live 32 years. [5] So, in recent years, life expectancy has increased, not only due to innovative therapeutic procedures or the development of antibiotics [6], but also thanks to early diagnosis, which is greatly contributed to by neonatal screening. Early recognition of cystic fibrosis and the associated initiation of treatment is an important factor in the prognosis of this disease [3].
fastGEN CFTR kit – The new member of the fastGEN family
The fastGEN CFTR kit developed by BioVendor offers a simple and fast analysis of all 27 exons of the CFTR gene and part of the adjacent intron regions (7, 9, 11, 12 and 22). The kit maintains its user-friendly properties with low input DNA amount and short manual preparation (<30 minute). It is suitable for DNA samples from whole blood, from buccal swab and from Guthrie cards.
You haven't heard of fastGEN technology yet?
The fastGEN technology provides a method of sensitive, specific and time-efficient examination of the mutational status of clinical markers using NGS technology. The principle of fastGEN technology is ultra-deep sequencing of short amplicons obtained by a single polymerase chain reaction with specially labelled hybrid primers.
It wouldn't be an all-in-one solution without software
GENOVESA is an intuitive and easy-to-use software for complex bioinformatics analysis of NGS data. Beginners in NGS data analysis can find preset filters in GENOVESA for simplified and time-saving identification of clinically relevant variants, on the other hand, it allows experienced users to modify parameters, use complex filtering rules and visually evaluate variants at the level of individual reads.
[1] Guo J., Garratt A. and Hill A. Worldwide rates of diagnosis and effective treatment for cystic fibrosis. Journal of Cystic Fybrosis 2022; 21: 456-462.
[2] Bareil C. and Bergougnoux A. CFTR gene variants, epidemiology and molecular pathology. Archives de Pédiatrie 2020; 27: eS8-eS12.
[3] Naehrig S., Chao Ch.M. and Naehrlich L. Cystic Fibrosis. Deutsches Ärzteblatt International 2017; 114: 564-574.
[4] Sosnay P. R., Raraigh K. S. and Gibson R. L. Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype. Pediatric Clinics of North America 2016; 63: 585-598.
[5] Cystic Fibrosis Foundation. (2002) Cystic Fibrosis Foundation. United States. [Web Archive] Retrieved from the Library of Congress, https://www.loc.gov/item/lcwaN0000114/.
[6] HODSON, Margaret E., Duncan M. GEDDES a Andrew BUSH. Cystic fibrosis. 3rd ed. Hodder Arnold, 2007. ISBN 0340907584