University Hospital Southampton NHS Foundation Trust
PCD diagnostic service

PCD diagnostic service

Southampton General Hospital is one of three national primary ciliary dyskinesia (PCD) diagnostic centres in England. We offer a diagnostic service for both adults and children.

Your appointment

Diagnostic appointments last approximately one hour. During your appointment you will be seen by members of the PCD team. The team includes a specialist consultant, nurse and physiotherapist. You will be asked about your current health and medical history before a series of tests are performed.

Nitric oxide levels

For adults and children over the age of five, a nasal nitric oxide test is performed. The test measures the amount of nasal nitric oxide gas in your nose. A small tube is placed against your nostril as it is measures the gas whilst you hold your breath.

Younger children may be asked to try a similar test while breathing normally.

This procedure is repeated several times and is not uncomfortable.

Lung function tests 

Lung function tests involve blowing hard, fast and as long as possible into a tube connected to a computer. There are games incorporated for children to encourage effort throughout the test.

The tests measure how effective the airways are at emptying the lungs.

Nasal brushings

We collect the microscopic cilia (hair like structures) from the nose by inserting a tiny brush into each nostril; this can be uncomfortable but is very quick. 

Samples are immediately sent to the laboratories within the hospital to check we have collected enough cilia. Very occasionally we carry out a second brushing before you leave the clinic. This is to try and prevent the need for return visits if the first sample is insufficient.

Over the following days and weeks the laboratory scientists examine how the sample of cilia are beating and also look at the structure within the cilia. 

If the results are found to be inconclusive, the PCD scientists will need to grow the cells in the laboratory before reanalysing the cilia. This is quite a lengthy process taking up to 16 weeks.

Genetic testing

Genetic testing is increasingly important in diagnosing PCD. A blood test is taken from the patient, and we also request blood tests from family members for us interpret the results. There are now more than 30 known PCD-causing genes and we are able to confirm a diagnosis of PCD in over 60% of patients. If we're unable to identify the causative gene in a patient with PCD, the patient is invited to participate in a research project to discover new genes, or to participate in the 100,000 Genome Project.

Further information

Your consultant will keep you informed by post of the results. If we demonstrate you have PCD we will bring you back to clinic to explain the diagnosis and treatment in full.

Please note: if you or your child has had a cold or an increase in symptoms in the four to six weeks prior to your appointment date, please contact us. We may need to delay your visit because viruses and infections can affect diagnostic results.

For more information on PCD and how it's diagnosed, we recommend you visit the PCD Family Support Group's website.