Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder characterized by the presence of purulent rhinorrhea and bronchorrhea starting at birth or during the first months of life, relapsing infections of the upper and lower airways, median otitis, and infertility. In 40-50% of cases, it is associated with situs inversus.
Its prevalence is approximately 1:10,000-20,000 individuals. It is secondary to abnormal structure and function of cilia in the epithelium of the respiratory and reproductive tracts, leading to defective mucociliary clearance with obstruction due to abnormally thick secretions, thus promoting bacterial colonization and superinfection. It has occasionally been described to follow X-linked or autosomal dominant inheritance patterns. In recent years, mutations in more than 30 different genes have been reported as causative of 70% of PCD cases, revolutionizing the diagnosis of the disease.

Specific primary ciliary dyskinesia panel [43 genes]
ARMC4 CCDC39 CCDC40 CCDC65 CCDC103
CCDC114 CCDC151 CCNO CENPF C21orf59
C11orf70 DNAAF1 DNAAF2 DNAAF3 DNAAF4
DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8
DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1
DRC1 GAS8 HYDIN INVS LRRC56
MCIDAS LRRC6 NME8 OFD1 PIH1D3
RPGR RSPH1 RSPH3 RSPH4A RSPH9
SPAG1 TTC25 ZMYND10