RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR)

• Main Authors: Nirosha Kugalingam (Author), Deepthi De Silva (Author), Hiranya Abeysekera (Author), Sriyani Nanayakkara (Author), Shamala Tirimanne (Author), Dinali Ranaweera (Author), Prashanth Suravajhala (Author), Vishvanath Chandrasekharan (Author)
• Format: Book
• Published: BMC, 2023-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Retinoblastoma (RB) a tumour affecting those under 5 years, has a prevalence of 1 in 20,000, with around twenty new diagnoses per year in Sri Lanka. Unilateral and bilateral RB presents around 24 and 15 months respectively. Approximately 10% are familial. Systematic genetic testi...