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Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

Shoemark, A; Frost, E; Dixon, M; Ollosson, S; Kilpin, K; Patel, M; Scully, J; ... Hogg, C; + view all (2017) Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia. American Journal of Respiratory and Critical Care Medicine , 196 (1) pp. 94-101. 10.1164/rccm.201607-1351OC. Green open access

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Abstract

RATIONALE The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the UK 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 bi-allelic disease causing mutations is also diagnostic, but many disease causing genes are unknown, and testing is not widely available outside the USA. Fluorescent antibodies to ciliary proteins are used to validate research genetic studies, but diagnostic utility in this disease has not been systematically evaluated. OBJECTIVES: Determine utility of a panel of six fluorescent labelled antibodies as a diagnostic tool for PCD. METHODS: Immunofluorescent labelling 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 to diagnostic outcome. MEASUREMENTS AND MAIN RESULTS: Immunofluorescence correctly identified mislocalised 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. Immunofluorescence additionally provided a result in 55% (39) of cases which were previously inconclusive. Immunofluorescence results were available within 14 days, costing $187 per sample compared to electron microscopy (27 days, cost $1452). CONCLUSIONS: Immunofluorescence is a highly specific diagnostic test for PCD, and improves the speed and availability of diagnostic testing, however, sensitivity is limited and immunofluorescence is not suitable as a stand-alone test.

Type: Article
Title: Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1164/rccm.201607-1351OC
Publisher version: http://dx.doi.org/10.1164/rccm.201607-1351OC
Language: English
Additional information: Copyright © 2017 by the American Thoracic Society. Originally Published in American Journal of Respiratory and Critical Care Medicine: [FULL CITATION]. DOI: 10.1164/rccm.201607-1351OC. The final publication is available at http://dx.doi.org/10.1164/rccm.201607-1351OC
Keywords: Antibody, Cilia, Respiratory epithelium, Ultrastructure
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases > MRC Prion Unit at UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1542850
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