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Table 2 Methods and limitations used for confirmation of PCD diagnosis

From: Diagnosis and management of primary ciliary dyskinesia

Method Limitation
Nasal NO level May be decreased in other disorders, for example, acute sinusitis or cystic fibrosis; rarely normal values may be present in PCD
High frequency video microscopy (HVMA) Variants with subtle beating abnormality may be interpreted as normal; secondary ciliary dyskinesia due to infection and inflammation is very common - distinction from PCD phenotype may be difficult
Transmission electron microscopy (TEM) Approximately ~30% of PCD cases have no ultrastructural abnormality; false-positive diagnoses common in some variants (notably inner dynein arm defects)
Immunofluorescence microscopy (IF) No abnormality in approximately ~20%; technical difficulties if specimen contains a lot of mucus
Genetics Expensive due to high number of PCD genes; only approximately 60% of cases can be identified by genetic testing at present