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Updated: Aug 12, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
GenEye24: Novel rapid screening test for the top-3 Leber's Hereditary Optic Neuropathy pathogenic sequence variants
Sara Martins1, Maria João Santos2, Márcia Teixeira3
1CIBB - Center for Innovative Biomedicine and Biotechnology (www.cibb.uc.pt/), Coimbra, Portugal; Laboratory of Mitochondrial Biomedicine and Theranostics, CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal; Biology Department, University of Aveiro, Aveiro, Portugal.
Abstract:
Leber's Hereditary Optic Neuropathy (LHON) has been mainly (90-95 %) associated to one of three variants: m.3460G>A, m.11778G>A, m.14484T>C. Herein, a screening method was developed for its detection, supporting clinical/therapeutics decision. It relies on real-time PCR with High-Resolution Melting (HRM) analysis. Variant classification is made using HRM Software and quality controls. A total of 101 samples were analyzed. All samples were correctly assigned: 58 wild-type, 35 positive for m.11778G>A, 6 positive for m.14484T>C, 2 positive for m.3460G>A. Results presented sensitivity = 1, specificity = 1, Positive Predictive Value = 1 and Negative Predictive Value = 1. A new Real-Time PCR/HRM screening method cost-efficient, simple, robust and quick, detecting LHON's top-3 is described.
