Abstract

Study Design: Prospective Study

Purpose: To develop SMS (Sequential Molecular Screening) strategy for rapid, accurate and cost-effective molecular diagnosis of retinoblastoma

Methods: We have developed a stepwise strategy for the molecular diagnosis that involves Sanger sequencing, Multiplex Ligation dependent Probe Amplification (MLPA), Methylation specific MLPA (MS-MLPA), Targeted exome and whole exome analysis. This strategy was validated with more than 500 patient samples.
Results: Using our SMS, it was possible to detect and confirm genetic changes in 93% of cases within three weeks. We detected a spectrum of variants including point mutations, deletions, duplications, promoter methylation in RB1 gene and copy number variations in many cancer genes.
Conclusion: Our SMS has enhanced the mutation detection rate and reduced the time by half.

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