GenEye24: Novel rapid screening test for the top-3 Leber’s Hereditary Optic Neuropathy pathogenic sequence variants

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.