In this issue we published 2 studies that examined genetic testing in diagnosing serious illnesses in children. In the first, Tan and colleagues examined 61 ambulatory children at a mean age of 28 months and provided 23 (52%) with diagnoses through singleton whole-exome sequencing. Eight diagnoses (35%) were unexpected and the sequencing was cost-saving.. The Editorial by Lemke discusses the use of high-throughput sequencing early in the diagnostic workup of children with early-onset disorders.

中文翻译：

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强调

在本期中，我们发表了2项研究，这些研究检查了基因测试在诊断儿童严重疾病中的作用。首先，Tan及其同事检查了61名平均年龄为28个月的非卧床儿童，并通过单例全外显子组测序诊断了23名（52％）。八次诊断（35％）出乎意料，并且测序节省了成本。.Lemke的社论讨论了高通量测序在早期诊断患有早期疾病的儿童中的早期使用。