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 |