Diagnostic Application of an Extensive Gene Panel for Leber Congenital Amaurosis with Severe Genetic Heterogeneity

We report results of a diagnostic application of an extensive gene panel composed of 204 retinal dystrophy–related genes and discuss its feasibility as a diagnostic tool. Nineteen unrelated LCA patients were included in the study: two patients for validation purposes of our gene panel, 15 previously analyzed patients with no identified mutations, and two previously unanalyzed patients.

Source: Journal of Molecular Diagnostics - October 24, 2014 Category: Pathology Authors: Moon-Woo Seong, Soo Hyun Seo, Young Suk Yu, Jeong-Min Hwang, Sung Im Cho, Eun Kyung Ra, Hyunwoong Park, Seung Jun Lee, Ji Yeon Kim, Sung Sup Park Tags: Regular Article Source Type: research