PRIMARY CILIARY DYSKINESIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 42 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Primary Ciliary Dyskinesia panel is designed for the genetic diagnosis of inherited forms of ciliary dysfunction that cause impaired mucociliary clearance, recurrent respiratory infections, chronic sinusitis, otitis media, bronchiectasis, and, in some cases, situs inversus or infertility. These diseases result from mutations in genes that encode structural or regulatory proteins of motile cilia. The study includes genes essential for axonemal formation and motility (DNAH5, DNAH11, DNAI1, DNAI2, DNAAF1-5, CCDC39, CCDC40, RSPH1, RSPH4A, RSPH9, GAS2L2, ZMYND10, SPAG1, SPEF2, STK36) and genes associated with complex ciliopathies (CFTR, OFD1, NOTCH2, RPGR, LRRC6, CFAP298). Identifying pathogenic variants allows for confirmation of the molecular etiology, establishment of respiratory and reproductive prognoses, optimization of clinical follow-up, and provision of family genetic counseling. Key genes analyzed include: DNAH5, DNAH11, CCDC39, CCDC40, DNAAF1, DNAAF2, RSPH1, RSPH4A, CFTR, and others. A complete list of analyzed genes can be obtained by contacting Genotica.
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