Cystic Fibrosis

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Obtaining the sample at home.

The cystic fibrosis, also known as muscoviscidosis is a recessive hereditary disease that affects the organism in a general way. The difficulty to breathe is one of the most common symptoms, as a consequence of the chronic lung infections, which can be resistant to the treatment with antibiotics and other drugs.

It is one of the most common hereditary diseases. The cystic fibrosis is caused by a mutation of a gene called Cystic Fibrosis Transmembrane Regulator (CFTR). Its prevalence is higher amongst Caucasians 1/25 and it is an asymptomatic carrier of a mutation of the gene CFTR. The affected people can be diagnosed by means of prenatal genetic tests; also by means of neonatal screening, or during the early childhood.

By means of molecular biology techniques, prevalent mutations can be detected in the population, reaching a disease diagnose within the molecular field.

In IB Biotech, we detect the 33 most frequent mutations in the population.

How to send your sample?.

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