Bronchiectasis is a chronic airway disorder characterized by irreversible bronchial dilation, recurrent respiratory infections, impaired mucus clearance, and progressive lung damage. Hereditary bronchiectasis may result from abnormalities of mucociliary clearance, epithelial ion transport, immune function, or other pathways involved in airway defense.

This panel includes genes associated with the major genetic causes of bronchiectasis, including primary ciliary dyskinesia, cystic fibrosis and CFTR-related disorders, epithelial sodium-channel disorders, and selected primary immunodeficiencies.

This panel is recommended for patients with early-onset, familial, or otherwise unexplained bronchiectasis when more than one underlying disease mechanism is being considered. It is particularly appropriate when the phenotype may be compatible with primary ciliary dyskinesia but cystic fibrosis, immune deficiency, epithelial ion-transport disorders, or other hereditary causes of bronchiectasis also remain in the differential diagnosis. When the clinical and functional findings specifically indicate a motile ciliopathy, GC_24 – Primary Ciliary Dyskinesia Panel may be preferred.