How is PCD diagnosed?
Primary ciliary dyskinesia (PCD) can be difficult to diagnose, as your doctor may think there’s another reason for your child’s symptoms. On this page, we explain how PCD is diagnosed and the different tests your child may have.
Even though most children will have symptoms from birth, the diagnosis of primary ciliary dyskinesia (PCD) may not be made until much later. This is because PCD is difficult to diagnose. Your doctor may think there is another reason for your child’s symptoms because they’re similar to other childhood conditions.
But it’s important your child is diagnosed as early as possible. Take a look at our information on going to your doctor to help you get the most out of your appointments.
If your GP, paediatrician or other specialist doctor thinks your child has PCD they will refer them to a specialist team. Your child will either be seen at a clinic, or a specialist may visit a centre nearer your home.
There is no single test that can diagnose PCD. The specialist will investigate by looking at clinical history, doing a combination of tests and using the evidence they have to predict the likelihood of your child having PCD.
Tests for PCD
If your child is old enough, a simple screening test can be done. This involves measuring a sample of the air your child breathes. This is called a nasal nitric oxide (nasal NO) measurement.
If your child is old enough, they may be asked to hold their breath, but the test can be done during normal breathing too.
If the nasal NO test is low, more tests may need to be done to help confirm the diagnosis of PCD:
- A sample of cilia (tiny hairs) from your child’s nose will be collected. This is called a nasal brush biopsy or nasal brushing. This is done in a specialist centre. The sample will be looked at under a microscope to see the movement of cilia, on the surface of these cells.
Genetic blood tests can pick up genes associated with PCD in the majority of cases.
Other tests for children with suspected PCD
Other tests your child may have, include:
- a test to see how well your child’s lungs work - a lung function test or spirometry
- a chest X-ray
- a CT scan
- a bronchoscopy – when your child’s lungs are looked at with a small camera. While this is performed, samples may be collected from your child’s airway using a small brush called a bronchoscopic brush - this test is called a bronchial biopsy.