当前男性因素不孕NGS检测综述

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL
M. Levkova, T. Chervenkov, M. Hachmeriyan, L. Angelova
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引用次数: 0

摘要

目的——不孕不育是一个全球性的健康问题。下一代测序和小组测试为进一步诊断男性不育的原因提供了新的机会。这篇论文的目的是更好地了解目前可用于男性精子发生障碍不育的面板。方法——我们在基因检测登记处使用关键词“不孕不育”、“男性不孕不育”进行了研究“。我们还收集了有关受试基因数量、小组覆盖范围、周转时间以及可以订购的任何额外测试的信息。结果——因此,有11个实验室提供男性不育的小组测试,测试了230种不同的基因,但有65种基因(28.26%)来自不同面板的数据在测试条件下具有不确定的作用。所有实验室都认为囊性纤维化跨膜电导调节剂是唯一的基因。结论——下一代测序在男性不育的诊断过程中可能非常有帮助。然而,临床医生应该意识到,一些包含的基因在男性不育中起着不确定的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Overview Of Current NGS Testing For Male Factor Infertility
Aim — Infertility is a global health problem. The next-generation sequencing and panel testing are offering new opportunities to further diagnose the reason for male infertility. The aim of this paper is to provide a better insight into the currently available panels for male infertility due to impaired spermatogenesis. Methods — We conducted research in the Genetic testing registry by using the keywords „infertility“, „male infertility“. We also gathered information about the number of tested genes, coverage of the panels, turnaround time, and any additional tests, which could be ordered. Results — As a result there were eleven laboratories, offering panel testing for male infertility, which tested for 230 different genes, but 65 genes (28.26%) from the different panels had an uncertain role for the tested condition. Cystic fibrosis transmembrane conductance regulator was the only gene, suggested by all laboratories. Conclusions — Next-generation sequencing could be extremely helpful in the diagnostic process of male infertility. However, clinicians should be aware that some of the included genes have an uncertain role for male infertility.
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来源期刊
Russian Open Medical Journal
Russian Open Medical Journal MEDICINE, GENERAL & INTERNAL-
CiteScore
0.90
自引率
0.00%
发文量
39
期刊介绍: Russian Open Medical Journal (RusOMJ) (ISSN 2304-3415) is an international peer reviewed open access e-journal. The website is updated quarterly with the RusOMJ’s latest original research, clinical studies, case reports, reviews, news, and comment articles. This Journal devoted to all field of medicine. All the RusOMJ’s articles are published in full on www.romj.org with open access and no limits on word counts. Our mission is to lead the debate on health and to engage, inform, and stimulate doctors, researchers, and other health professionals in ways that will improve outcomes for patients. The RusOMJ team is based mainly in Saratov (Russia), although we also have editors elsewhere in Russian and in other countries.
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