An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia



: Djakow J, Kramna L, Dusatkova L, Uhlik J, Pursiheimo JP, Svobodova T, Pohunek P, Cinek O

Publisher: Wiley-Blackwell

: 2016

: Pediatric Pulmonology

: PEDIATRIC PULMONOLOGY

: Pediatr Pulm

: 51

: 5

: 498

: 509

: 12

: 8755-6863

DOI: https://doi.org/10.1002/ppul.23261


ConclusionsWe present a combination of Sanger sequencing with an NGS panel for known and candidate PCD genes, implemented in a moderate-size national collection of patients. This strategy has proven to be cost-effective, rapid and reliable, and was able to detect the causative gene in two thirds of our PCD patients. Pediatr Pulmonol. 2016;51:498-509. (c) 2015 Wiley Periodicals, Inc.




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