Table 2.
Positive Tests That Diagnosed Children With Primary Ciliary Dyskinesia (PCD).
| Diagnostic method | No. (%) |
|---|---|
| Electron microscopy defect alone (negative genetics) | 3 (6) |
| ODA defect | 3 |
| Two disease-causing variants in known PCD genes | 40 (85) |
| DNAH5 | 12 |
| DNAH11 | 5 |
| CCDC114 | 3 |
| CCNO | 3 |
| CFAP221 | 3 |
| CCDC39 | 2 |
| CCDC40 | 2 |
| HYDIN | 2 |
| ARMC4 | 1 |
| CFAP300 | 1 |
| DNAAF1 | 1 |
| DNAAF2 | 1 |
| DNAI1 | 1 |
| LRRC6 | 1 |
| RSPH1 | 1 |
| RSPH4A | 1 |
| nNO <77 nL/mina | 4 (9) |
Abbreviations: nNO, nasal nitric oxide; ODA, outer dynein arm defect.
a
nNO <77 nL/min on at least 2 separate visits, with negative cystic fibrosis and immunodeficiency testing, as well as nondiagnostic transmission electron microscopy and genetic testing.