TY - JOUR T1 - Diagnostic testing in people with primary ciliary dyskinesia around the world: where do we stand? JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.congress-2022.4476 VL - 60 IS - suppl 66 SP - 4476 AU - L D Schreck AU - E S L Pedersen AU - I Cizeau AU - C Kruljac AU - J S Lucas AU - M Goutaki AU - C E Kuehni Y1 - 2022/09/04 UR - http://erj.ersjournals.com/content/60/suppl_66/4476.abstract N2 - Background: In the past, few patients with primary ciliary dyskinesia (PCD) were diagnosed with the test combination recommended by guidelines (nasal nitric oxide (nNO), genetic testing, and biopsy for electron or video microscopy) [Halbeisen, ERJ, 2019]. In a large international participatory study of people with PCD, we assessed the current situation.Methods: We used data from COVID-PCD, an international study of people with PCD, who participated between 2020 and 2022. Participants described their diagnostic tests in an online questionnaire, and we used logistic regression to identify explanatory factors.Results: 728 participated (median age 27 years, IQR: 12-43; 60% female). Among them, 92% reported that any diagnostic testing had been done: 49% nNO, 59% genetics, and 75% biopsy for electron or video microscopy. Most did not know whether the sample had been analysed with TEM or video microscopy. Biopsy was most frequent in all countries except in North America where genetic testing predominated. Only 36% of participants reported all three tests. This proportion was highest in Germany (61%) and lowest in Australia (19%). Recently diagnosed patients reported more tests (nNO OR 1.7, 95%CI 1.1-2.6, genetics OR 4.5, 95%CI 2.9-6.9), and those with situs inversus less (nNO OR 0.5, 95%CI 0.3-0.7, biopsy OR 0.4, 95%CI 0.3-0.7, genetics OR 0.7, 95%CI 0.5-0.97).Conclusion: Diagnostic testing in people with PCD differed by country and few reported having undergone all recommended tests. Patients diagnosed long ago should be recalled for supplementary testing to improve diagnostic characterisation as a prerequisite for personalised medicine.Funding: SNSF 320030B_192804, SLA 2021-08_PedersenFootnotesCite this article as Eur Respir J 2022; 60: Suppl. 66, 4476.This article was presented at the 2022 ERS International Congress, in session “-”.This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only). ER -