Diagnosis of primary ciliary dyskinesia: searching for a gold standard

Significant advances have been made in the diagnosis of patients with primary ciliary dyskinesia (PCD) including centralised services [1–3], European consensus guidelines [4], systematic, protocol-directed diagnostic testing in a national service in the UK [2] and in a PCD research consortium in North America [1], and evidence for standardisation of nasal nitric oxide testing as a test for PCD [5]. Moreover, there have been striking advances in discovery of PCD genes and multigene panels in Europe and North America. Despite these developments there remains no “gold standard” single, diagnostic test for PCD. Thus, the diagnosis usually requires a number of technically demanding, sophisticated investigations that are not available in many centres or countries