Primary Ciliary Dyskinesia Diagnosis

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Your healthcare provider or your child’s provider will diagnose primary ciliary dyskinesia (PCD) based on your symptoms, family history, and test results.

Researchers have found many genes associated with PCD. Genetic testing can show whether you have faulty genes linked to the disease.

Genetic testing is done using a blood sample. The sample is taken from a vein in your body using a needle. The blood sample is checked at a special genetic testing laboratory (lab).

Couples who are planning to have children and know that they are at risk of having a child with PCD may want to meet with a genetic counselor. A genetic counselor can answer questions about the risk and explain the choices that are available.

Your healthcare provider can use a special microscope, called an electron microscope, to look at samples of your airway cilia. This test can show whether there are any problems with the structure of your cilia or how they are working.

An ear, nose, and throat (ENT) specialist or a pulmonologist (a doctor who specializes in treating conditions affecting the respiratory system, including the lungs) will take samples of your cilia. The provider will brush the inside of your nose to remove some cells from your airways. However, this test doesn’t give a final diagnosis.

Sometimes healthcare providers use one or more of the following tests to help diagnose PCD. Some of these tests are less complex than genetic testing and electron microscopy, and they can be done in a provider’s office.

Based on your test results, your provider may recommend a more complex test.

• Ear, nose and throat tests: Because ear and sinus symptoms are common in PCD, tests focused on those areas can determine if you have hearing loss or loss of your sense of smell. Exams could include pressure testing to check the eardrum for fluid buildup.
• Lung function tests: These are a group of tests that evaluate how well the lungs work by measuring lung volume, rates of flow, and gas exchange. Lung function may be lower in people living with PCD than in those not living with the disease.
• Nasal nitric oxide measurement: This test measures the level of nitric oxide (a gas) when you breathe out. In people who have PCD, the level of nitric oxide is very low compared with normal levels. The reason for this is currently unknown.
• Video microscopy: For this test, a pulmonologist brushes the inside of your nose to get a sample of cilia. Then he or she looks at the cilia under a microscope to see how they move. Abnormal movement of the cilia may be a sign of PCD.
• Radiolabeled particles: For this test, you breathe in tiny particles that have a small, safe amount of radiation attached to them. Your provider will test how well your cilia can move the particles. If your lungs remove the particles more slowly than normal, your cilia may not be working well. This could be a sign of PCD.
• Semen analysis: This test is used for adult men. In men, PCD can affect cilia-like structures that help sperm cells move. As a result, men who have PCD may have fertility problems. For this test, a sample of semen is checked under a microscope. Sperm that don’t look normal or a low sperm count may be signs of PCD.
• Chest computerized tomography (CT) or other imaging: This test checks for structural changes in the lung as a result of chronic infections. A thorough physical exam, followed by an X-ray of the chest and abdomen and echocardiography, will also identify most cases of situs inversus.

Your provider also might want to do tests to rule out diseases and disorders that have symptoms similar to those of PCD. For example, you may have tests to rule out cystic fibrosis or immune disorders.