Summary of Recommendations

Document Overview

Design and created by Guideline Central in participation with the American Thoracic Society and European Respiratory Society.

Diagnosis of Primary Ciliary Dyskinesia

American Thoracic Society

European Respiratory Society

Publication Date: Sep 26, 2025

Page Last Updated: May 5, 2026

Summary of Recommendations Table

Nasal Nitric Oxide

nNO during velum closure can be used in addition to electron microscopy and/or genetics to diagnose PCD (strong recommendation, moderate certainty of evidence).
nNO during tidal breathing can be used in addition to electron microscopy and/or genetics to diagnose PCD (strong recommendation, moderate certainty of evidence).
A normal nNO result does not exclude PCD and therefore the test should not be used as a stand-alone diagnostic test.
A positive nNO test result can support a diagnosis of PCD if in concordance with other tests.
For younger patients (2-5 years) unable to achieve velum closure, measurement during tidal breathing can be informative but has lower accuracy and more variability.
Equipment, measurement, reporting and interpretation should follow ATS and ERS technical standard guidance (42, 43).
Some patients with PCD have nNO levels above the recommended threshold for diagnosis, and other tests should be considered if the clinical suspicion of PCD remains.

High speed video microscopy

HSVM can be used in addition to electron microscopy and/or genetics to diagnose PCD (strong recommendation, very low certainty of evidence).
A positive HSVM test result can support a diagnosis of PCD if in concordance with other tests.
Post-culture analysis should be utilized whenever possible, as pre-culture HSVM testing has lower specificity compared to post-culture analysis.
HSVM requires a high throughput of samples to gain and maintain the requisite expertise but is a very useful supportive diagnostic test where phenotypical beat patterns can be attributed to genotype and a diagnosis. The panel suggests limiting the use of HSVM to centres with expertise in performing these tests and referring patients in need for HSVM testing to those specialist centres.

Immunofluorescence

IF can be used in addition to electron microscopy and/or genetics to diagnose PCD (strong recommendation, high certainty of evidence).
A normal IF result does not exclude PCD and therefore the test should not be used as a stand-alone diagnostic test.
A positive test result can support a diagnosis of PCD if in concordance with other tests.
To improve diagnostic accuracy of IF, and avoid a high proportion of inconclusive results, sample collection, processing, and analysis should be performed in a laboratory with experience performing this test. Moreover, the accuracy of IF is dependent on the antibody panel chosen and the quality of the used antibodies. Furthermore, batch to batch variability between antibodies is common and may affect the accuracy of the results if performed by an inexperienced laboratory.
IF may provide additional evidence for the diagnosis in cases associated with genetic VUS.

Other conclusions:

Nasal NO, high-speed video microscopy, and immunofluorescence staining are all valuable in PCD testing and could all be included in a PCD diagnostic testing algorithm.
No single test has 100% specificity and sensitivity, which necessitates the use of multiple tests in a diagnostic approach.
There is no evidence for using any single test in a specific order, however there may be practical considerations to start with one test compared to others.
Not all tests are required in all circumstances. However, limiting the number of tests conducted may impact the diagnostic accuracy.
The quality and technique of the test conducted are critical. Tests should be performed to meet a minimum standard (for guidance see PICO text). More extensive tests will be more accurate (e.g. a 10 antibody panel for immunofluorescence vs 2 antibodies).
Referral to an expert centre for diagnosis should be conducted whenever possible.

Grading of Recommendations, Assessment, Development, and Evaluation (GRADE)-Based Recommendations

Implications for:	Strong Recommendation (S)	Conditional Recommendation (C)
Patients	Most individuals in this situation would want the recommended course of action, and only a small proportion would not.	The majority of individuals in this situation would want the suggested course of action, but many would not.
Clinicians	Most individuals should receive the intervention. Adherence to this recommendation according to the guideline could be used as a quality criterion or performance indicator. Formal decision aids are not likely to be needed to help individuals make decisions consistent with their values and preferences.	Recognize that different choices will be appropriate for individual patients and that you must help each patient arrive at a management decision consistent with his or her values and preferences. Decision aids may be useful in helping individuals to make decisions consistent with their values and preferences.
Policy	The recommendation can be adopted as policy in most situations.	Policymaking will require substantial debate and involvement of various stakeholders.

Certainty in the Evidence
High	H	Low	L
Moderate	M	Very Low	VL

Source: Grading of Recommendations Assessment, Development and Evaluation Working Group (Schunemann HJ et al. Am J Respir Crit Care Med. 2006;174:605-14. Guyatt GH et al. BMJ 2008;336:924-6).

Document Overview

Document Title: Diagnosis of Primary Ciliary Dyskinesia

Authoring Societies

American Thoracic Society

European Respiratory Society

Document Publication Date: Sep 26, 2025

Page Last Reviewed/Updated: May 5, 2026

Document Type: Guideline

Country of Publication: Global

Full Text Freely Available: Yes

Full Text Guideline: publications.ersnet.org/content/erj/early/2025/09/18/13993003.00745-2025.full.pdf

Source Citation: Shoemark A, Goutaki M, Kinghorn B, et al. European Respiratory Society and American Thoracic Society guidelines for the diagnosis of Primary Ciliary Dyskinesia. Eur Respir J 2025; in press (https://doi.org/10.1183/13993003.00745-2025).

Document Scope, Criteria, and Use Cases

Document Objectives: Primary ciliary dyskinesia (PCD) is caused by pathogenetic variants in >55 genes. PCD is associated with early-onset chronic wet cough and rhinosinusitis, laterality defects, middle ear disease, and reduced fertility. The clinical presentation is heterogeneous, and diagnosis often relies on multiple tests. The American Thoracic Society (ATS) and European Respiratory Society (ERS) have previously developed separate guidelines for diagnosis. Here, ERS and ATS members systematically reviewed the literature on diagnostic tools used in practice and developed unified evidence-based guidelines for PCD diagnosis using GRADE (Grading of Recommendations, Assessment, Development and Evaluations) methodology, and a transparent process of decision-making using Evidence-to-Decision (EtD) frameworks. The Task Force panel formulated three PICO (Patients, Intervention, Comparison, Outcomes) questions and three narrative questions. The accuracies of high-speed video microscopy (HSVM), immunofluorescence (IF), and nasal nitric oxide (nNO) were compared to a reference test of transmission electron microscopy (TEM) and/or genetics. The panel gives strong recommendation for use of HSVM, IF, and nNO as adjunct tests to TEM and/or genetics for PCD diagnosis. However, no adjunct test is suitable as a standalone test to diagnose PCD and no single adjunct or reference test is suitable to exclude PCD. Pursuing a genetic diagnosis is encouraged due to the implication on management. The panel emphasizes that tests should meet a minimum standard and proposes evaluation of patients at a referral centre experienced in diagnosis. The pretest probability based on symptoms should be considered when interpreting results.

Scope: Assessment and Screening, Diagnosis

Diseases/Conditions (MeSH)

D020820 - Dyskinesias

Keywords: Dyskinesia, Kartagener syndrome, PCD, primary ciliary dyskinesia, situs inversus

Target Patient Population: Adult and pediatric patients with primary ciliary dyskinesia (PCD)

Target Provider Population: Clinicians investigating adult and pediatric patients for possible PCD

Inclusion Criteria: Male, Female, Adolescent, Adult, Child, Infant

Health Care Settings: Ambulatory

Intended Users: Nurse, Nurse Practitioner, Physician, Physician Assistant

Recommendation Development Processes & Methodology

PICO Questions

Should patients suspected for PCD be tested with nasal nitric oxide in addition to electron microscopy and/or genetics?
Should patients suspected for PCD be tested with nasal nitric oxide measurement during tidal breathing in addition to electron microscopy and/or genetics?
Should patients suspected for PCD be tested with nasal nitric oxide measurement during tidal breathing in addition to electron microscopy and/or genetics?
Should patients suspected for PCD be tested with ciliary beat pattern assessment using high-speed video microscopy in addition to electron microscopy and/or genetics?
Should patients suspected for PCD be tested with ciliary beat pattern assessment of post-cell culture using high speed video microscopy in addition to electron microscopy and/or genetics?
Should patients suspected for PCD be tested with ciliary beat pattern assessment of pre-cell culture using high speed video microscopy in addition to electron microscopy and/or genetics?
Should patients suspected for PCD be tested with immunofluorescence in addition to electron microscopy and/or genetics?
What are the clinical manifestations in the newborn period, childhood, and adulthood driving a decision to refer a patient for PCD diagnostic testing?
What additional diagnostic tests could be useful for diagnosing PCD?
Overcoming PCD diagnostic challenges in resource-limited settings: what strategies work?

Diagnosis of Primary Ciliary Dyskinesia

Summary of Recommendations

Summary of Recommendations Table

Figure. Graphical presentation of proposed algorithm for the diagnosis of PCD

Grading of Recommendations, Assessment, Development, and Evaluation (GRADE)-Based Recommendations

Document Overview

Document Scope, Criteria, and Use Cases

Recommendation Development Processes & Methodology