How Is Primary Ciliary Dyskinesia Diagnosed?

Your doctor or your child's doctor will diagnose primary ciliary dyskinesia (PCD) based on signs and symptoms and test results.

If your primary care doctor thinks that you may have PCD or another lung disorder, he or she may refer you to a pulmonologist. This is a doctor who specializes in diagnosing and treating lung diseases and conditions.

Signs and Symptoms

Your doctor will look for signs and symptoms that point to PCD, such as:

• Respiratory distress (breathing problems) at birth
• Chronic sinus, middle ear, and/or lung infections
• Situs inversus (internal organs in positions opposite of what is normal)

For more information, go to "What Are the Signs and Symptoms of Primary Ciliary Dyskinesia?"

Your doctor also may ask whether you have a family history of PCD. PCD is an inherited disease. "Inherited" means the disease is passed from parents to children through genes. A family history of PCD suggests an increased risk for the disease.

Diagnostic Tests

If the doctor thinks that you or your child might have PCD, he or she may recommend tests to confirm the diagnosis.

Genetic Testing

Researchers have found many gene defects 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).

Electron Microscopy

Doctors can use a special microscope, called an electron microscope, to look at samples of your airway cilia. This test can show whether your cilia are faulty.

An ear, nose, and throat (ENT) specialist or a pulmonologist (lung specialist) will take samples of your cilia. He or she will brush the inside of your nose or remove some cells from your airways.

The doctor will send the samples to a lab. There, a pathologist will look at them under an electron microscope. (A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope.)

Other Tests

Sometimes doctors use one or more of the following tests to help diagnose PCD. These tests are less complex than genetic testing and electron microscopy, and they can be done in a doctor's office.

However, these tests don't give a final diagnosis. Based on the test results, doctors may recommend the more complex tests.

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 amount of radiation attached to them. When you breathe out, your doctor will test how well your cilia can move the particles.

If you breathe out a smaller than normal number of particles, your cilia may not be working well. This could be a sign of PCD.

Nasal nitric oxide. 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. Doctors don't know why people who have PCD breathe out such low levels of nitric oxide.

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. ("Fertility" refers to the ability to have children.)

For this test, a sample of semen is checked under a microscope. Abnormal sperm may be a sign of PCD.

Tests for other conditions. Your doctor 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.

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