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

• Egile Nagusiak: Nirosha Kugalingam (Egilea), Deepthi De Silva (Egilea), Hiranya Abeysekera (Egilea), Sriyani Nanayakkara (Egilea), Shamala Tirimanne (Egilea), Dinali Ranaweera (Egilea), Prashanth Suravajhala (Egilea), Vishvanath Chandrasekharan (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2023-11-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...