Cystic Fibrosis is the most common genetic disease in the Caucasian population, estimating its incidence on 1 hit for every 2,000-4,000 births and a carrier frequency of one every 20 to 25 live births.
It is a multisystemic disease, with autosomal recessive inheritance, characterized by impaired function of the exocrine glands that affects different organs, including the digestive and respiratory system. Lung disease is the most common cause of morbidity and mortality.
Cystic Fibrosis is caused by mutations in the CFTR gene, which encodes a protein that represents a chloride channel regulated by cAMP. When this protein is mutated, there is a change in the amount and composition of epithelial fluid, affecting organs that have this type of tissue.
The CFTR gene is also associated with congenital absence of vas deferens (ARVC). This anomaly occurs between 2-5% of the cases of male infertility and in about 75 % of these patients is found at least one mutation in the CFTR gene.
There are several diagnostic methods that have been usually used, most common being the sweat test. The performance of the sweat test requires great skill and experience and often needs further confirmation. Furthermore, the results of this test are not always conclusive: 2% of the population of this diagnostic is misdiagnosed, mostly due to milder clinical presentations of the disease.
Another way to diagnose the disease is detecting mutations in CFTR gene. This type of analysis can even detect cases that escape beyond other techniques and can always be used as a confirmatory test.
There are approximately 1,400 described mutations in the CFTR gene, the most common mutation is the deletion of three base pairs (CTT), called ΔF508, encoding the amino acid phenylalanine. This mutation was found in 53% of patients in Spain, but in the north of Europe the frequency is higher (70-80 %).
Currently, there are commercial kits that allow detecting the most frequent mutations of CFTR gene.
However, these kits are not specifically designed for Spanish population that have a different mutational frequency, so they cover lower percentage of cases than in people of northern Europe.
Sequencing the whole gene is undoubtedly, with the sensitivity close to 100%, the safest way to find the genetic cause of the disease.
In Secugen we offer a genetic analysis based on the complete sequencing of MLPA and CFTR gene, giving results quickly (3-4 weeks) and at an affordable price.
Our genetic study is presented as a tool that opens up new alternatives: