Correct lung function is essential from the early stages of life. The lung is the organ responsible for breathing and certain genetic defects compromise its proper function.

Symptoms to suspect presence of some pulmonary alteration include shortness of breath, chest pain, persistent cough, fatigue and recurrent lung infections.

Genetic studies in pneumology allow to accelerate the establishment of a treatment to prevent the development of symptoms and even death, mainly in newborns who may have inherited some of these pathologies.

Many genes involved in the development of these diseases are known but the clinical features are usually common to many of them, making their diagnosis difficult. Gene panels assist in differential diagnosis, which is important in establishing appropriate treatment. Lung conditions can be very diverse and some of the most common are primary ciliary dyskinesia and cystic fibrosis.

Types of genetic tests in pneumology


Cystic fibrosis is a very common genetic disease among European population and it is caused by mutations in the CFTR gene. More than 1200 different mutations have been identified, so characterizing the underlying genetic defect makes it possible to guide targeted therapies that improve CFTR channel functionality and thus, greatly alleviate the patient’s symptoms.



Given the large number of genes that may be involved in lung diseases, genetic panels become indispensable for detecting the genetic cause of the disease. Its identification will allow to make management decisions such as: provide specific treatments for genetic alteration, evaluate risks, prevent their transmission to offspring, etc.


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