Saccharin test3 | False negatives and false positives, screening test at best | Not useful to diagnose or exclude PCD |
Radionuclide mucociliary clearance4 | Good sensitivity and specificity but only limited experience or access in most centres | Not useful to diagnose or exclude PCD |
Nasal nitric oxide5 | Used as the screening test of choice, also low in cystic fibrosis and other conditions; now also part of the diagnostic investigation | Normal nasal nitric oxide = PCD very unlikely |
Ciliary motility studies | Can be affected by recent viral infection | Normal ciliary beat frequency and pattern = PCD excluded If abnormal, repeat after treatment of infection or proceed to ciliary culture Abnormal ciliary beat frequency and/or pattern on an adequate sample = definite PCD
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Transmission electron microscopy | Can be affected by recent viral infection | |
Culture of ciliary biopsy6 | Cilia regrown in culture, used to differentiate secondary ciliary dyskinesia in PCD | |
Genetic studies | >250 potential loci, very few known genes | |
Immunofluorescence of ciliary proteins7 | Limited experience only and applicable to date to very few proteins | |