Analysis and interpretation of
genetic respiratory diseases

The most complete genetic diagnosis services our studies

Interpretation

Reports prepared by specialist Meet our team is key

Patients

Cuttin-edge technology meets personalized medicine

our priority

Clinical experience

More than 20 years of experience in inherited genetic diseases

Knowledge management

Expert detailed curation of scientific literature

Our reports

From diagnosis to prognosis

Our reports contain detailed information about the characteristics of relevant detected variants.

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NGS PANELS

respiratory diseases

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.

Respiratory infections

Respiratory infections NGS panels info requestrequest consentconsent
Respiratory infections comprehensive panel [51 genes]
Cystic fibrosis (CF) basic & extended panels [1 / 8 genes]
Bronchiectasis panel (BC) [48 genes]
Specific primary ciliary dyskinesia panel (PCD) [43 genes]
Primary immunodeficiency panel(PID) [301 genes]

Cystic lung diseases

Cystic lung diseases NGS panels info requestrequest consentconsent
Cystic lung diseases comprehensive panel [10 genes]
Alpha-1 antitrypsin deficiency specific panel [1 gene]

Interstitial lung disease

INTERSTITIAL LUNG DISEASE NGS panels info requestrequest consentconsent
Interstitial lung disease and surfactant dysfunction comprehensive panel [68 genes]
Idiopathic pulmonary fibrosis and familial pulmonary fibrosis panel [23 genes]
Hermansky-Pudlak syndrome panel [21 genes]
Alveolar proteinosis panel [9 genes]
Childhood and infant interstitial lung disease panel [21 genes]
Infant respiratory distress syndrome panel (IRDS) [15 genes]
Dyskeratosis congenita panel (DC) [16 genes]

Pulmonary arterial hypertension

PULMONARY ARTERY HYPERTENSION NGS panels info requestrequest consentconsent
Pulmonary arterial hypertension panel [25 genes]

Respiratory failure associated with neurologic disorders

RESPIRATORY FAILURE ASSOCIATED WITH NEUROPATHY NGS panels info requestrequest consentconsent
Genetic muscle disorders comprehensive panel [264 genes]
Hereditary neuropathy comprehensive panel [107 genes]