Primary ciliary dyskinesia (PCD) is an inherited disorder of motile cilia characterized by chronic sinopulmonary disease, recurrent respiratory infections, bronchiectasis, neonatal respiratory distress, and frequently laterality defects. Some individuals also develop infertility due to impaired motile cilia function.

This panel includes genes associated with abnormalities of motile ciliary structure, assembly, regulation, and function, including defects involving the dynein arms, radial spoke apparatus, nexin-dynein regulatory complex, and multiciliated-cell development. Representative genes include DNAH5, DNAH11, DNAI1, DNAAF genes, CCDC39, CCDC40, RSPH genes, CCNO, MCIDAS, and FOXJ1.

This panel is recommended for patients with a clinical presentation or functional testing suggestive of primary ciliary dyskinesia, such as chronic upper and lower respiratory disease, neonatal respiratory distress, laterality abnormalities, characteristic ciliary ultrastructural or functional findings, or persistently low nasal nitric oxide. It is the preferred targeted test when a motile ciliopathy is the primary diagnostic consideration rather than a broader range of hereditary causes of bronchiectasis.