More than 20 years of experience in inherited genetic diseases
Expert detailed curation of scientific literature
From diagnosis to prognosis
Our reports contain detailed information about the characteristics of relevant detected variants.
Genetic respiratory diseases are a heterogeneous group of entities that can debut at any age, with pulmonary manifestations that can be isolated or associated with the involvement of other organs. Phenotypes often overlap, and their diagnosis is complex and highly variable due to the presence of modulator genes and to the significant environmental influence on the airways and lungs.
We are moving towards personalized medicine, in which genetic testing plays a major role in the diagnostic process and in genetic counselling. Technological advances have allowed determining a hereditary basis for entities whose etiology was previously unknown. In some cases, the genotype provides relevant information for prognosis and selection of therapeutic interventions.
PneumoHIC panels address the analysis of respiratory diseases for which evidence of a genetic cause has been found after an extensive review of the literature.
They have been designed with a primarily clinical focus and are aimed at helping healthcare professionals select the most suitable panel for the patient’s phenotype.