BRONCHIECTASIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 22 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Bronchiectasis panel is designed for the genetic diagnosis of hereditary or congenital forms of this lung disease, characterized by irreversible bronchial dilation, recurrent respiratory infections, and impaired mucociliary clearance. These forms can result from mutations affecting ciliary structure and function, epithelial ion transport, or the maintenance of bronchial architecture. The study includes genes related to primary ciliary dyskinesia (CCDC39, CCDC40, DNAH5, DNAI1, DNAI2, DNAAF1, DNAAF2, DNAH11, DNAL1, RSPH1, RSPH4A, RSPH9, STK36), cystic fibrosis and associated channelopathies (CFTR, SCNN1A, SCNN1B, SCNN1G), and connective tissue or bronchial integrity disorders (FBN1, GAS2L2, POLD1). Identifying pathogenic variants allows for establishing the molecular etiology, guiding clinical and physiotherapy management, assessing respiratory prognosis, and offering family genetic counseling. Key genes analyzed include: CFTR, CCDC39, CCDC40, DNAH5, DNAH11, DNAI1, RSPH1, SCNN1B, SCNN1G, and others. A complete list of analyzed genes can be obtained by contacting Genotica.
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