title: Diagnostic Methods in Primary Ciliary Dyskinesia.
abstract: Diagnosing primary ciliary dyskinesia is difficult. With no reference standard, a combination of tests is needed; most tests require expensive equipment and specialist scientists. We review the advances in diagnostic testing over the past hundred years, with emphasis on recent advances. We particularly focus on use of high-speed video analysis, transmission electron microscopy, nasal nitric oxide and genetic testing. We discuss the international efforts that are in place to advance the evidence base for diagnostic tests.
authors.affiliation: Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Academic Unit of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK. Electronic address: jlucas1@soton.ac.uk.
authors.forename: Jane S
authors.initials: JS
authors.lastname: Lucas
authors.affiliation: Department of Pediatric Pulmonology, VU University Medical Center, Amsterdam, the Netherlands; Department of Pulmonary Diseases, VU University Medical Center, Amsterdam, the Netherlands.
authors.forename: Tamara
authors.initials: T
authors.lastname: Paff
authors.affiliation: Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Academic Unit of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
authors.forename: Patricia
authors.initials: P
authors.lastname: Goggin
authors.affiliation: Department of Pediatric Pulmonology, VU University Medical Center, Amsterdam, the Netherlands.
authors.forename: Eric
authors.initials: E
authors.lastname: Haarman
mesh_terms: D003948:Diagnostic Techniques, Respiratory System; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis*; D015203:Reproducibility of Results
keywords: Diagnosis; Electron microscopy; Genetics; High speed video analysis; Nitric oxide; Primary ciliary dyskinesia