Paediatric lung diseases
Primary ciliary dyskinesia
Small panel (#433): primary ciliary dyskinesia - most common genes
DNAH5, DNAH11
(2 genes, 25 kb)
Large panel (#434): primary ciliary dyskinesia - all genes
ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP300, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, GAS2L2, GAS8, HYDIN, LRRC56, LRRC6, MCIDAS, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, TTC25, ZMYND10
(40 genes, 139 kb)
Interstitial lung disease/alveolar proteinosis
Small panel (#435): Interstitial lung disease
ABCA3, CSF2RA, CSF2RB, FLNA, FOXF1, NKX2-1, SFTPB, SFTPC
(8 genes, 21 kb)