期刊
MOLECULAR SYNDROMOLOGY
卷 6, 期 1, 页码 23-31出版社
KARGER
DOI: 10.1159/000371598
关键词
Diagnostic odyssey; Schinzel-Giedion syndrome; Whole-exome sequencing
Whole-exome sequencing (WES) is being used clinically to diagnose rare Mendelian disorders, especially when standard tests have failed. The diagnostic yield from WES is reported to be similar to 15-30%; however, data regarding the clinical utility and interpretative challenges from the clinician's perspective are lacking. Here, we present a series of the first 6 unselected consecutive cases seen over a period of 6 months where WES was employed in clinical labs via triobased testing (proband and parents). While we do not discount the value of WES in the clinical setting, our cases and experience illustrate the significant clinical challenges of WES, even when a diagnosis may be achieved. (C) 2015 S. Karger AG, Basel
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据