The study involves sequencing the coding sequence of 26 of the over 50 genes whose mutations cause PCD: DNAH5, SPAG1, CCDC39, DNAH11, DNAI1, CCDC40, LRRC6 (DNAAF11), CFAP300, RSPH4A, DNAAF4 (DYX1C1), TTC25 (ODAD4), CCNO, OFD1, PIH1D3 (DNAAF6), ZMYND10 (DNAAF7), RPGR, CCDC65, CCDC103, DNAI2, FOXJ1, DNAAF3, RSPH9, HYDIN, CCDC164 (DRC1), DNAAF1, CFAP221. The cost of the test is 2500 PLN.
The panel includes all genes in which causative mutations have been found in previous studies conducted at IGC PAN in the Polish PCD population (more than 60% of genetically diagnosed patients in a group including more than 500 families with suspected PCD). [Zietkiewicz et al. 2010 PMID: 21143860; Zietkiewicz et al. 2012 PMID: 22448264; Bukowy-Bieryłło et al. 2013 PMID: 22888088; Zietkiewicz et al. 2019 PMID: 31366608; Bukowy-Bieryłło et al. 2019 PMID: 30916986; Zietkiewicz unpublished data – obtained under the project NCN 2018/31/B/NZ2/03248].