Primary Ciliary Dyskinesia (PCD)

The Department of Respiratory Medicine hosts the state wide Primary Ciliary Dyskinesia diagnostic service. PCD is an uncommon inherited condition and more common causes of symptoms such as chronic cough and upper airway symptoms should be excluded before a referral to the service is initiated.

The diagnostic service is available to patients of all ages and is able to study patients from the first week of life into late adult life.

Referrals

All referrals should be sent directly to Dr Philip Robinson at the address below. Referrals will only be accepted from consultant physicians and  Ear Nose and Throat surgeons. Other medical personnel wishing to refer patients to the service should discuss the referral with Dr Robinson directly.

PCD clinic

The PCD clinic held twice monthly on a Tuesday afternoon at Specialist Clinics Desk A1 on the ground floor of The Royal Children’s Hospital (RCH). 

Testing procedure

Testing takes between 30–60 minutes and consists of several steps. All patients are initially seen by Dr Robinson where the reason for referral and past symptoms are discussed. Following this a discussion of PCD in general terms and  a description of the testing to be completed is given. Patients then attend  the testing laboratory at A3 and are introduced to the scientists who will conduct the testing.

The following tests are performed:

1. Patients over the age of five will firstly perform exhaled nasal nitric oxide. This is a tidal breathing test and easily completed. This part of the testing takes about 10–15 minutes. 
2. Nasal brushing: A sample of cells from the anterior aspect of the nasal passage is obtained by using a small cytology brush and rubbing inside the nose. This testing may take less than five seconds and may cause some mild nasal irritation and eye watering. The nasal brushing sample will be viewed  under light microscopy immediately after sampling to ensure sufficient cells have been obtained. Re-brushing may be required if insufficient cells are obtained.
3. At the completion of this test the patient is able to leave.

Results

No results will be available to the patient on the day of testing. All results will be forwarded to the referring doctor.

Results of ciliary brushing testing (ciliary beat frequency and synchronicity) are generally available within 1–2 weeks. If samples are submitted for electron microscopy final results will be generally be available within four weeks of testing.

If necessary cells may also be submitted for cell culture. This step will take a further 2–3 weeks.

Contact details for queries or referrals

Professor Phil Robinson
Department of Respiratory Medicine
The Royal Children’s Hospital
Parkville  3025

Phil.robinson@rch.org.au

Telephone: +61 3 9345 5818
Facsimile: +61 3 9345 9154

Back to Lab Services