Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel

In this study, we clinically and molecularly characterized a cohort of 51 Italian patients with clinical signs of PCD. A custom next-generation sequencing panel that enables the affordable and simultaneous screening of 24 PCD genes was developed for genetic analysis.

Source: Journal of Molecular Diagnostics - September 12, 2016 Category: Pathology Authors: Francesca Boaretto, Deborah Snijders, Cecilia Salvoro, Ambra Spalletta, Maria Luisa Mostacciuolo, Mirella Collura, Salvatore Cazzato, Donatella Girosi, Michela Silvestri, Giovanni Arturo Rossi, Angelo Barbato, Giovanni Vazza Tags: Regular Article Source Type: research