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首页> 外文期刊>Genetic testing and molecular biomarkers >Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example
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Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example

机译：翻译研究基因测试的罕见综合征在临床服务测试索托斯综合征为例

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摘要

It is often the case that the genetic background of a rare disease has been solved, but the testing of a clinical patient can be performed only through research projects. Translating a research-based test into diagnostic service may also appear laborious and costly. Based on our molecular research of the genetics of Sotos syndrome, we developed a clinical laboratory test that is both effective and relatively inexpensive. Methods and Results: Pilot testing was performed with samples of clinically diagnosed Sotos cases (n=13), and testing was continued with samples of patients who were suspected of having Sotos syndrome (n=161). The testing methods used were direct sequencing and multiplex ligation-dependent probe amplification. Sotos syndrome was a suitable example for test translation, because its genetic background was well established, and the demand for the test was expected to be fairly high. In the pilot phase, a mutation was detected in 12 out of 13 patients (92%), and in the second group, 49 out of 161 (30%) patients had a mutation in the NSD1 gene. Conclusions: In Sotos syndrome, detecting the mutation is valuable for the patient/family, while the value of a negative result is less clear and other differential diagnostic diagnoses should be considered. For successful translation of the research-based test into routine diagnostics, intense collaboration between clinicians, researchers, and diagnostic laboratory personnel is essential.
机译：通常情况下,遗传背景一种罕见的疾病已经得到解决,但可以执行测试的临床病人只有通过研究项目。研究测试诊断服务也显得费力而昂贵。分子遗传学的研究索托斯综合症,我们开发了一个临床实验室测试这是有效的和相对便宜。进行临床样品吗索托斯(n = 13)情况下,诊断和测试继续的患者样本疑似索托斯综合症(n = 161)。测试方法是直接测序和使用多路复用ligation-dependent探测器放大。索托斯综合症是一个适合测试的例子翻译,因为它的遗传背景建立,测试的需求预计将相当高。突变检测在12 13个病人(92%),在第二组,49 161(30%)患者NSD1基因的突变。结论:在索托斯综合症,检测病人/家属突变是有价值的,而阴性结果的价值降低了明确和其他诊断鉴别诊断应该考虑。研究的测试例程诊断,强烈的合作临床医生、研究人员和诊断实验室人员是至关重要的。

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