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Diagnosis of primary ciliary dyskinesia: searching for a gold standard

Diagnosis of primary ciliary dyskinesia: searching for a gold standard
Diagnosis of primary ciliary dyskinesia: searching for a gold standard
Significant advances have been made in the diagnosis of patients with primary ciliary dyskinesia (PCD) including centralised services [1–3], European consensus guidelines [4], systematic, protocol-directed diagnostic testing in a national service in the UK [2] and in a PCD research consortium in North America [1], and evidence for standardisation of nasal nitric oxide testing as a test for PCD [5]. Moreover, there have been striking advances in discovery of PCD genes and multigene panels in Europe and North America. Despite these developments there remains no “gold standard” single, diagnostic test for PCD. Thus, the diagnosis usually requires a number of technically demanding, sophisticated investigations that are not available in many centres or countries.
0903-1936
1418-1422
Lucas, Jane S.
5cb3546c-87b2-4e59-af48-402076e25313
Leigh, Margaret W.
70d7e4e3-28ad-4bd2-a5c1-5daba603e1cb
Lucas, Jane S.
5cb3546c-87b2-4e59-af48-402076e25313
Leigh, Margaret W.
70d7e4e3-28ad-4bd2-a5c1-5daba603e1cb

Lucas, Jane S. and Leigh, Margaret W. (2014) Diagnosis of primary ciliary dyskinesia: searching for a gold standard. European Respiratory Journal, 44 (6), 1418-1422. (doi:10.1183/09031936.00175614). (PMID:25435529)

Record type: Article

Abstract

Significant advances have been made in the diagnosis of patients with primary ciliary dyskinesia (PCD) including centralised services [1–3], European consensus guidelines [4], systematic, protocol-directed diagnostic testing in a national service in the UK [2] and in a PCD research consortium in North America [1], and evidence for standardisation of nasal nitric oxide testing as a test for PCD [5]. Moreover, there have been striking advances in discovery of PCD genes and multigene panels in Europe and North America. Despite these developments there remains no “gold standard” single, diagnostic test for PCD. Thus, the diagnosis usually requires a number of technically demanding, sophisticated investigations that are not available in many centres or countries.

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Published date: December 2014
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 372451
URI: https://eprints.soton.ac.uk/id/eprint/372451
ISSN: 0903-1936
PURE UUID: 9aecc046-3be3-4f77-b4f2-52ee9f4abfe3

Catalogue record

Date deposited: 10 Dec 2014 16:34
Last modified: 15 Jul 2019 21:36

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