Accuracy of diagnostic testing in primary ciliary dyskinesia

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dc.contributor.authorJackson, Claire L.
dc.contributor.authorBehan, Laura
dc.contributor.authorCollins, Samuel A.
dc.contributor.authorGoggin, Patricia M.
dc.contributor.authorAdam, Elizabeth C.
dc.contributor.authorColes, Janice L.
dc.contributor.authorEvans, Hazel J.
dc.contributor.authorHarris, Amanda
dc.contributor.authorLackie, Peter
dc.contributor.authorPackham, Samantha
dc.contributor.authorPage, Anton
dc.contributor.authorThompson, James
dc.contributor.authorWalker, Woolf T.
dc.contributor.authorKuehni, Claudia
dc.contributor.authorLucas, Jane S.
dc.contributor.funderHeart of England NHS Foundation Trusten
dc.contributor.funderNational Institute for Health Researchen
dc.contributor.funderWellcome Trusten
dc.contributor.funderSeventh Framework Programmeen
dc.date.accessioned2019-11-27T09:49:36Z
dc.date.available2019-11-27T09:49:36Z
dc.date.issued2016-02-29
dc.description.abstractDiagnosis of primary ciliary dyskinesia (PCD) lacks a “gold standard” test and is therefore based on combinations of tests including nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVMA), genotyping and transmission electron microscopy (TEM). There are few published data on the accuracy of this approach. Using prospectively collected data from 654 consecutive patients referred for PCD diagnostics we calculated sensitivity and specificity for individual and combination testing strategies. Not all patients underwent all tests. HSVMA had excellent sensitivity and specificity (100% and 93%, respectively). TEM was 100% specific, but 21% of PCD patients had normal ultrastructure. nNO (30 nL·min−1 cut-off) had good sensitivity and specificity (91% and 96%, respectively). Simultaneous testing using HSVMA and TEM was 100% sensitive and 92% specific. In conclusion, combination testing was found to be a highly accurate approach for diagnosing PCD. HSVMA alone has excellent accuracy, but requires significant expertise, and repeated sampling or cell culture is often needed. TEM alone is specific but misses 21% of cases. nNO (≤30 nL·min−1) contributes well to the diagnostic process. In isolation nNO screening at this cut-off would miss ∼10% of cases, but in combination with HSVMA could reduce unnecessary further testing. Standardisation of testing between centres is a future priority.en
dc.description.statusPeer revieweden
dc.description.versionPublished Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationJackson, C. L., Behan, L., Collins, S. A., Goggin, P. M., Adam, E. C., Coles, J. L., Evans, H. J., Harris, A., Lackie, P., Packham, S., Page, A., Thompson, J., Walker, W. T., Kuehni, C. and Lucas, J. S. (2016) 'Accuracy of diagnostic testing in primary ciliary dyskinesia', European Respiratory Journal, 47(3), pp. 837-848. doi: 10.1183/13993003.00749-2015en
dc.identifier.doi10.1183/13993003.00749-2015en
dc.identifier.eissn1399-3003
dc.identifier.endpage848en
dc.identifier.issn0903-1936
dc.identifier.issued3en
dc.identifier.journaltitleEuropean Respiratory Journalen
dc.identifier.startpage837en
dc.identifier.urihttps://hdl.handle.net/10468/9259
dc.identifier.volume47en
dc.language.isoenen
dc.publisherEuropean Respiratory Societyen
dc.relation.projectinfo:eu-repo/grantAgreement/EC/FP7::SP1::HEALTH/305404/EU/Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia/BESTCILIAen
dc.rights© 2016, ERS. ERJ Open articles are open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.en
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/en
dc.subjectDiagnostic testingen
dc.subjectPrimary ciliary dyskinesiaen
dc.subjectGold standard testen
dc.subjectNasal nitric oxide (nNO)en
dc.subjectHigh-speed video microscopy analysis (HSVMA)en
dc.subjectTransmission electron microscopy (TEM)en
dc.titleAccuracy of diagnostic testing in primary ciliary dyskinesiaen
dc.typeArticle (peer-reviewed)en
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