An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia - UTU Research Portal

A1 Refereed original research article in a scientific journal

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

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

Publisher: Wiley-Blackwell

Publication year: 2016

Journal: Pediatric Pulmonology

Journal name in source: PEDIATRIC PULMONOLOGY

Journal acronym: Pediatr Pulm

Volume: 51

Issue: 5

First page : 498

Last page: 509

Number of pages: 12

ISSN: 8755-6863

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

Abstract

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.