Summary
For patients with a strong clinical phenotype for primary ciliary dyskinesia (PCD), American Thoracic Society guidelines suggest the use of extended (>12 genes) genetic testing panels instead of traditional transmission electron microscopy as a diagnostic test when nasal nitric oxide is not available1, 2. To further investigate the use of genetic testing in this patient population, we retrospectively analyzed the genetic findings identified in 404 patients undergoing testing with the Blueprint Genetics Primary Ciliary Dyskinesia panel. Key findings included
- 25% of patients received a positive finding across 26 genes
- Of patients with positive results, 38% had variants in genes not listed in the standard 12-gene panel referenced in guidelines1,2, including 7 positive findings in the HYDIN gene, which includes exons complicated by >98% sequence homology
The results of this study support the use of expanded multi-gene panels in patients with suspected PCD and demonstrate the added value of coverage of the difficult-to-sequence gene, HYDIN.
Authors:
Victoria Howell, Kimberly Gall, Johanna Huusko, Manuel Bernal, Allison Faber, Satu Valo, Lotta Koskinen, Tiia Kangas-Kontio, Inka Saarinen, Ville Kytölä, Pauli Siivonen, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
References:
- Shapiro AJ, Davis SD, Polineni D, et al. American Thoracic Society Assembly on Pediatrics. Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39.
- Kim RH, A Hall D, Cutz E, Knowles MR, Nelligan KA, Nykamp K, Zariwala MA, Dell SD. The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Ann Am Thorac Soc. 2014; 11(3):351-9.