Pulmonology
Diagnostic test based on NGS of multiple genes associated to a disease, condition, or phenotype.
Panels
Bronchiectasis and Primary Ciliary Dyskinesia
Bronchiectasis is a chronic lung disease characterized by a pathologic and irreversible dilation of the airways. The heterogeneity of bronchiectasis is a major challenge in clinical practice.
Cystic Fibrosis
Cystic Fibrosis (CF) is the most common lethal inherited disease in white persons. It is a life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America and Australia.
Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis (IPF) is a specific form of chronic, progressive lung disease defined as the presence of progressive lung scarring in the form of fibrosing interstitial pneumonia of unknown cause with the histopathological finding of usual interstitial pneumonia (UIP).
Pulmonary Artery Hypertension
Pulmonary Artery Hypertension (PAH) is defined as a mean pulmonary arterial pressure greater than 25mmHg at rest or greater than 30mmHg during exercise.
Surfactant Metabolism Dysfunction
Surfactant Metabolism Dysfunction is a condition characterized by insufficient pulmonary surfactant needed for appropriate respiration.
Primary Ciliary Dyskinesia Precision Panel
Primary Ciliary Dyskinesia (PCD) is a highly heterogeneous syndrome characterized by congenital impairment of mucociliary clearance (MCC). The underlying cause is a defect of cilia in the airways, making them unable to beat normally and move respiratory secretions.
