Diagnosis

Diagnosing primary ciliary dyskinesia (PCD) has traditionally been challenging, often relying on detailed analysis of ciliary structure through tissue biopsies.

However, advances in genetic research and a clearer understanding of the typical PCD phenotype have significantly improved the diagnostic process.

The ATS Clinical Practice Guideline for the Diagnosis of PCD is now available for free on the American Thoracic Society website. This evidence-based document offers a comprehensive overview of current best practices, addressing both the complexities and the common misconceptions surrounding PCD diagnosis.

From the PCDF Consensus Statement:

PCD is a rare disorder; consequently, only a limited number of centers have extensive experience in its diagnosis and management. Research over the past decade has transformed the diagnostic landscape—introducing tools like nasal nitric oxide (nNO) testing and genetic screening. Still, many individuals remain undiagnosed or misdiagnosed. Large-scale clinical trials are lacking, so this review includes consensus recommendations from North American PCD experts on diagnosis, monitoring, and management.

The Diagnostic Process

Getting a PCD diagnosis can be complex and frustrating. Symptoms often begin at birth, yet many patients go years before receiving an accurate diagnosis—even after consulting multiple specialists. One of the greatest challenges is that no single test can diagnose PCD with 100% certainty.

Currently, there are two accepted diagnostic methods:

Ciliary biopsy from the nose or trachea to analyze ciliary ultrastructure
Genetic testing that identifies two known PCD-causing mutations (one from each parent)

Additional Screening Tests

While not approved for standalone diagnosis in the U.S., these tests are often used in research or as supportive tools:

Nasal nitric oxide (nNO) measurement
High-speed videomicroscopy to observe ciliary beat patterns
Immunofluorescence staining using antibodies to visualize ciliary proteins

Importantly, diagnostic testing should only be pursued in individuals who meet the clinical criteria for PCD. Testing in those without a compatible phenotype has led to a high rate of false positives.

Recognizing PCD Symptoms

PCD symptoms almost always appear at birth or shortly afterward. The following are hallmark features:

In newborns (typically full-term):

Respiratory distress or breathing problems in the first days of life

In infants and young children:

Daily, year-round wet cough starting in the first months of life
Daily, year-round nasal congestion from infancy
Symptoms do not vary with seasons and only temporarily improve with antibiotics
Any laterality (organ placement) abnormality or organ development issue

In older children and adults:

Persistent symptoms above, plus:
- Chronic or recurrent ear infections
- Chronic pansinusitis (involving all sinuses)
- Evidence of bronchiectasis on imaging (CT or X-ray)
- Fertility issues

Where to Get Diagnosed

Because PCD is rare and diagnosis requires specialized tools and expertise, the PCD Foundation recommends visiting a Clinical and Research Network site whenever possible. These centers are best equipped to provide accurate diagnosis and guide follow-up care.

Learn more about the PCDF Clinical Centers Network.

Genetic Testing Options

Genetic testing is a key tool in diagnosing PCD. While some tests are performed in academic labs, many commercial providers also offer comprehensive PCD genetic panels. Your doctor and insurance provider will typically guide the choice of lab. Below is a list of commercial vendors that offer PCD testing:

Note: This list is for informational purposes only and does not imply endorsement of any specific test or provider. If you are a genetic testing vendor and would like to be listed here, please contact us at info@pcdfoundation.org

I Have all the Symptoms–It Must Be PCD

PCD diagnosis continues to be challenging. All current testing options available to aid in PCD diagnosis (biopsy with TEM, nasal nitric oxide measurement, high-speed videomicroscopy, immunofluorescent assay of ciliary proteins) have limitations and do not work in all cases of PCD.