Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

Background: The spectrum of RB1gene mutations in Retinoblastoma (RB) patients and the necessity of multiple traditional methods for complete variant analysis make the molecular diagnosis a cumbersome, labor-intensive and time-consuming process. Here, we have used targeted next generation sequencing (NGS) approach with in-house analysis pipeline to explore its potential for the molecular diagnosis of RB.

Methods: Thirty-three patients with RB and their family members were selected randomly.