TABLE 9

Summary of the Task Force consensus on the published evidence on immunofluorescence testing in primary ciliary dyskinesia (PCD) diagnostics

Whilst further evidence in a diagnostic setting is required, experts of the Task Force agreed:
 1. Immunofluorescence is able to confirm pathogenesis of mutations (e.g. missense mutations in genes encoding radial spoke proteins)
 2. Immunofluorescence can detect PCD in some cases with normal ultrastructure or subtle ultrastructural defects
 3. Immunofluorescence can help establish the diagnosis of PCD in outer and inner dynein arms, tubular disorganisation (CCDC39/CCDC40 mutations), central pair (genes encoding radial spoke proteins) and nexin link defects