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Diagnosis is only made in specialist units

If your GP, paediatrician or other specialist doctor thinks you or your child has PCD they will refer them to a PCD diagnostic centre. Diagnosis is only made in specialist units, of which there are three nationally funded centres in England at Leicester, Southampton and London. You or your child will either be seen at a clinic or an expert from the centre may visit a hospital nearer your home. It doesn’t matter where in the UK you live to be referred to one of the four PCD diagnostic centres, nor does it cost your GP to refer you for this. If you are suspected of having PCD, it is better to be diagnosed by a PCD diagnostic centre than to be sent for genetic testing, because genetic testing only identifies up to 70% of genes causing PCD.

These tests will allow your doctors to look at the ‘ultrastructure’ (how your cilia are built and arranged). They will also tell your doctors whether your cilia are moving as they should. Most PCD cases can be diagnosed this way, however a small minority of people might not get a complete diagnosis from these tests. Research is ongoing to develop more advanced techniques to assist in these more difficult to diagnose cases. For these small number of patients, they will be treated in the same way as confirmed cases.

Most diagnostic centres will test you within 4-18 weeks of being referred by your GP, although the COVID-19 pandemic has meant there have been small delays to this service. You might find that the nasal oxide test and lung function test is done the same day of your clinic appointment, but the cilia biopsy will take around 4-6 weeks to complete. Sometimes the biopsy sample is not good enough and this test will need to be repeated. We know it can be frustrating whilst you wait for results, but you will be given some advice and contact information whilst you wait and the PCD specialist team will contact you with your results.

How do we diagnose PCD?

Most diagnostic centres will test you within 4-18 weeks of being referred by your GP, although the COVID-19 pandemic has meant there have been small delays to this service. You might find that the nasal oxide test and lung function test is done the same day of your clinic appointment, but the cilia biopsy will take around 4-6 weeks to complete. Sometimes the biopsy sample is not good enough and this test will need to be repeated. We know it can be frustrating whilst you wait for results, but you will be given some advice and contact information whilst you wait and the PCD specialist team will contact you with your results.
To be diagnosed

You or your child will be seen by a consultant who will talk to them about their symptoms, your family and if they feel it necessary, they will conduct several diagnostic tests.

These may include:

  • Measuring the level of nitric oxide (‘NO’) in the nose: this involves breathing into a small tube. It is a painless, ‘non-invasive’ test and is usually done in people aged 5+.
  • A cilia biopsy: a small brush is used to ‘sweep’ cilia cells from high inside the nasal passages. This is slightly uncomfortable but is very quick. It might make your eyes water or make you sneeze. The cells are grown in a laboratory and then analysed using special microscopes to see how the cilia look and beat.
  • A blood test: Sometimes your doctor will recommend a genetic blood test to identify the affected gene causing your PCD. Scientist have now identified 50 genes that cause PCD. It is important not to only have genetic blood test, as these only identify around 70% of PCD cases.
  • Chest x-rays or a CT Scan: These scans are important for looking at your lungs and are generally considered low risk. You should speak to your doctor if you are worried.
  • Lung function tests: you may be asked by a nurse, physio or technician to blow into a special machine to see how well your lungs work. This is completely painless.
Once diagnosed with PCD, you will be introduced to the PCD team

Once diagnosed with PCD, you will be introduced to the PCD team who will look after your care. You will have access to a PCD specialist nurse who can help you with any aspect of having the condition.

Being diagnosed with PCD will affect all members of the family. Patients and their carers can react in many ways to the news that they or their child has a disability or medical condition. There may be feelings of isolation, worry, and a struggle to come to terms with the news, “why me?”. There may be problems balancing work and caring/introducing treatments into your schedule.  There may also be increased financial worries and a lack of understanding and support from those around you.

It is important that you talk to someone about the diagnosis. Try to make use of all your support networks – it might be your husband/wife or partner, relative, friend or neighbour or contact us.

After the initial diagnosis, many patients/carers think of lots of questions for their consultant. It is often useful to keep a list of these to ask at your next consultation, but if they are urgent, then contact your clinical nurse specialist.

You might find a professional counselling service a helpful way of unloading some of your thoughts and feelings. You can ask your PCD specialist nurse about this, or talk to your GP, who should be able to tell you about any local services.

Being Diagnosed with PCD: Sylvie’s Story