Primary Ciliary Dyskinesia (PCD): Tests and Diagnosis

What tests are used to diagnose primary ciliary dyskinesia?

The diagnosis of PCD is most commonly made by identifying structural or functional problems with the cilia. Health care providers examine the cilia structure using a high powered microscope. Samples of cilia are obtained from either the nose or lower airways (trachea). 

Genetic testing, which relies on a blood sample to see if a child has the mutated “PCD” gene, is now becoming more readily available. It is likely that genetic testing will become the main way to officially diagnose PCD in the future. 

Measuring nasal nitric oxide (a gas made by our bodies) is a useful additional test and for PCD in children ages 5 and older. People with PCD have very low levels of nasal nitric oxide.

How do providers at Children’s Hospital Colorado make a diagnosis?

The symptoms of PCD, such as a runny nose and ear infections, are normal for all children, which makes diagnosing PCD difficult. Some symptoms also point to other respiratory conditions like cystic fibrosis.  Your child’s medical history, symptoms and test results will all be used to make a diagnosis.