The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no "gold standard" reference test. Hence, a Task Force supported by the European Respiratory Society has developed this guideline to provide evidence-based recommendations on diagnostic testing, especially in light of new developments in such tests, and the need for robust diagnoses of patients who might enter randomised controlled trials of treatments. The guideline is based on pre-defined questions relevant for clinical care, a systematic review of the literature, and assessment of the evidence using the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach. It focuses on clinical presentation, nasal nitric oxide, analysis of ciliary beat frequency and pattern by high-speed video-microscopy analysis, transmission electron microscopy, genotyping and immunofluorescence. It then used a modified Delphi survey to develop an algorithm for the use of diagnostic tests to definitively confirm and exclude the diagnosis of primary ciliary dyskinesia; and to provide advice when the diagnosis was not conclusive. Finally, this guideline proposes a set of quality criteria for future research on the validity of diagnostic methods for primary ciliary dyskinesia.

AP HP Hôpital Kremlin Bicetre service d'ORL et de chirurgie cervico faciale Le Kremlin Bicetre France

Centre for PCD Diagnosis and Research Dept of Infection Immunity and Inflammation University of Leicester Leicester Royal Infirmary Leicester UK

Danish PCD and chILD Centre CF Centre Copenhagen Paediatric Pulmonary Service Dept of Paediatrics and Adolescent Medicine Copenhagen University Hospital Rigshospitalet Copenhagen Denmark

Dept of Paediatrics Inselspital University Hospital of Bern University of Bern Bern Switzerland

Dept of Pediatrics and Institute of Health Policy Management and Evaluation University of Toronto Toronto ON Canada

Dept of Pediatrics Respiratory Medicine Erasmus University Rotterdam The Netherlands

Dept of Pediatrics University Hospital Muenster Münster Germany

Depts of Paediatrics and Paediatric Respiratory Medicine Imperial College and Royal Brompton Hospital London UK

Division of Paediatric Pulmonology and Allergology Dept of Paediatrics and Adolescent Medicine Medical University of Graz Graz Austria

Division of Respiratory Medicine The Hospital for Sick Children Toronto ON Canada

ENT Dept University Hospitals Leuven Leuven Belgium

Faculté de Médecine Université Paris Sud Le Kremlin Bicêtre France

Iberoamerican Cochrane Center Barcelona Spain

Inserm UMR_S933 Sorbonne Universités Paris France

Institute of Social and Preventive Medicine University of Bern Bern Switzerland

Kartagener Syndrom und Primäre Ciliäre Dyskinesie e V Steffisburg Switzerland

Paediatric Dept 2nd Faculty of Medicine Charles University and Motol University Hospital Prague Czech Republic

Paediatric Dept Sapienza University of Rome Rome Italy

PCD Family Support Group Milton Keynes UK

Pediatric Pulmonology Dept of Translational Medical Sciences Federico 2 University Azienda Ospedaliera Universitaria Federico 2 Naples Italy

Primary Ciliary Dyskinesia Centre Dept of Woman and Child Health University of Padova Padova Italy

Primary Ciliary Dyskinesia Centre University Hospital Southampton NHS Foundation Trust Southampton UK

Service de Génétique et Embryologie Médicales Centre de Référence des Maladies Respiratoires Rares Hôpital Armand Trousseau Assistance Publique Hôpitaux de Paris Paris France

Telethon Kids Institute The University of Western Australia Subiaco Australia

University of North Carolina at Chapel Hill Chapel Hill NC USA

University of Southampton Faculty of Medicine Academic Unit of Clinical and Experimental Medicine Southampton UK

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