Diagnosis of primary ciliary dyskinesia: searching for a gold standard

Despite advances, standardised methods to diagnose primary ciliary dyskinesia are still needed http://ow.ly/CMYsf 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 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.