List of diseases covered by
Primary Ciliary Dyskinesia NGS panel
Gene | Condition |
ARMC4 | Ciliary dyskinesia, primary, 23 |
CCDC103 | Ciliary dyskinesia, primary, 17 |
CCDC114 | Ciliary dyskinesia, primary, 20 |
CCDC151 | Ciliary dyskinesia, primary, 30 |
CCDC39 | Ciliary dyskinesia, primary, 14 |
CCDC40 | Ciliary dyskinesia, primary, 15 |
CCDC65 | Ciliary dyskinesia, primary, 27 |
CCNO | Ciliary dyskinesia, primary, 29 |
CENPF | Stromme syndrome |
CFAP298 | Ciliary dyskinesia, primary, 26 |
DNAAF1 | Ciliary dyskinesia, primary, 13 |
DNAAF2 | Ciliary dyskinesia, primary, 10 |
DNAAF3 | Ciliary dyskinesia, primary, 2 |
DNAAF4 | Ciliary dyskinesia, primary, 25 |
DNAAF5 | Ciliary dyskinesia, primary, 18 |
DNAH1 | Ciliary dyskinesia, primary, 37 |
DNAH11 | Ciliary dyskinesia, primary, 7, with or without situs inversus |
DNAH5 | Ciliary dyskinesia, primary, 3, with or without situs inversus |
DNAH8 | Ciliary dyskinesia |
DNAI1 | Ciliary dyskinesia, primary, 1, with or without situs inversus |
DNAI2 | Ciliary dyskinesia, primary, 9, with or without situs inversus |
DNAL1 | Ciliary dyskinesia, primary, 16 |
DRC1 | Ciliary dyskinesia, primary, 21 |
GAS8 | Ciliary dyskinesia, primary, 33 |
LRRC6 | Ciliary dyskinesia, primary, 19 |
MCIDAS | Ciliary dyskinesia |
NME8 | Ciliary dyskinesia, primary, 6 |
PIH1D3 | Ciliary dyskinesia, primary, 36, X-linked |
RPGR | Ciliary dyskinesia; Retinitis pigmentosa 3; Cone-rod dystrophy, X-linked, 1; Macular degeneration, X-linked atrophic; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness |
RSPH1 | Ciliary dyskinesia, primary, 24 |
RSPH3 | Ciliary dyskinesia, primary, 32 |
RSPH4A | Ciliary dyskinesia, primary, 11 |
RSPH9 | Ciliary dyskinesia, primary, 12 |
SPAG1 | Ciliary dyskinesia, primary, 28 |
ZMYND10 | Ciliary dyskinesia, primary, 22 |