title: Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
abstract: The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists of assessing ciliary function by high-speed microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely available internationally. The identification of biallelic disease-causing mutations is also diagnostic, but many disease-causing genes are unknown, and testing is not widely available outside the United States. Fluorescent antibodies to ciliary proteins are used to validate research genetic studies, but diagnostic utility in this disease has not been systematically evaluated.
  
  
  
  To determine utility of a panel of six fluorescent labeled antibodies as a diagnostic tool for PCD.
  
  
  
  The study used immunofluorescent labeling of nasal brushings from a discovery cohort of 35 patients diagnosed with PCD by ciliary ultrastructure, and a diagnostic accuracy cohort of 386 patients referred with symptoms suggestive of disease. The results were compared with diagnostic outcome.
  
  
  
  Immunofluorescence correctly identified mislocalized or absent staining in 100% of the discovery cohort. In the diagnostic cohort immunofluorescence successfully identified 22 of 25 patients with PCD and normal staining in all 252 in whom PCD was considered highly unlikely. In addition, immunofluorescence provided a result in 55% (39) of cases that were previously inconclusive. Immunofluorescence results were available within 14 days, costing $187 per sample compared with electron microscopy (27 days; cost $1,452).
  
  
  
  Immunofluorescence is a highly specific diagnostic test for PCD, and it improves the speed and availability of diagnostic testing. However, sensitivity is limited and immunofluorescence is not suitable as a stand-alone test.
authors.affiliation: 1 Department of Paediatrics, Royal Brompton & Harefield NHS Trust, London, United Kingdom.
authors.forename: Amelia
authors.identifier: 0000-0001-7360-6060
authors.initials: A
authors.lastname: Shoemark
authors.affiliation: 1 Department of Paediatrics, Royal Brompton & Harefield NHS Trust, London, United Kingdom.
authors.forename: Emily
authors.initials: E
authors.lastname: Frost
authors.affiliation: 1 Department of Paediatrics, Royal Brompton & Harefield NHS Trust, London, United Kingdom.
authors.forename: Mellisa
authors.initials: M
authors.lastname: Dixon
authors.affiliation: 1 Department of Paediatrics, Royal Brompton & Harefield NHS Trust, London, United Kingdom.
authors.forename: Sarah
authors.initials: S
authors.lastname: Ollosson
authors.affiliation: 1 Department of Paediatrics, Royal Brompton & Harefield NHS Trust, London, United Kingdom.
authors.forename: Kate
authors.initials: K
authors.lastname: Kilpin
authors.affiliation: 2 Genetics and Genomic Medicine Programme, Institute of Child Health, University College London, London, United Kingdom; and.
authors.forename: Mitali
authors.initials: M
authors.lastname: Patel
authors.affiliation: 2 Genetics and Genomic Medicine Programme, Institute of Child Health, University College London, London, United Kingdom; and.
authors.forename: Juliet
authors.initials: J
authors.lastname: Scully
authors.affiliation: 1 Department of Paediatrics, Royal Brompton & Harefield NHS Trust, London, United Kingdom.
authors.forename: Andrew V
authors.initials: AV
authors.lastname: Rogers
authors.affiliation: 2 Genetics and Genomic Medicine Programme, Institute of Child Health, University College London, London, United Kingdom; and.
authors.forename: Hannah M
authors.initials: HM
authors.lastname: Mitchison
authors.affiliation: 1 Department of Paediatrics, Royal Brompton & Harefield NHS Trust, London, United Kingdom.|3 National Heart and Lung Institute, Imperial College London, London, United Kingdom.
authors.forename: Andrew
authors.initials: A
authors.lastname: Bush
authors.affiliation: 1 Department of Paediatrics, Royal Brompton & Harefield NHS Trust, London, United Kingdom.
authors.forename: Claire
authors.initials: C
authors.lastname: Hogg
mesh_terms: D005455:Fluorescent Antibody Technique / Q000379:methods* / Q000592:standards / Q000706:statistics & numerical data; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000378:metabolism; D009297:Nasal Mucosa / Q000378:metabolism; D015203:Reproducibility of Results; D006113:United Kingdom
keywords: antibody; cilia; electron microscopy