Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia

primary ciliary dyskinesia (PCD) is a rare genetic disorder, usually inherited as an autosomal recessive condition, or more rarely autosomal dominant or X‐linked. PCD is due to a defect in the structure and/or function of the motile cilia that are responsible for muco‐ciliary transport in the respiratory tract. From the diagnostic point of view, in case of PCD suspicion, the European Respiratory Society (ERS) guidelines recommend the measurement of nasal nitric oxide (nNO) as the initial screening test, transmission electron microscopy (TEM) and high‐speed video microscopy (HSVM) as second step, and eventually genetic testing only in highly suspected cases without a definite diagnosis. In European countries, the mean age at diagnosis is around 5 years, but it is often delayed in children with situs solitus. Here we present the case of a young girl who has been admitted to hospital several times in the first years of life due to respiratory distress in which routine screenings had previously yielded inconclusive results and for whom a definitive diagnosis was obtained only after having performed PCD genetic testing.