当前男性因素不孕NGS检测综述

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Russian Open Medical Journal Pub Date : 2022-03-20 DOI:10.15275/rusomj.2022.0101
M. Levkova, T. Chervenkov, M. Hachmeriyan, L. Angelova
{"title":"当前男性因素不孕NGS检测综述","authors":"M. Levkova, T. Chervenkov, M. Hachmeriyan, L. Angelova","doi":"10.15275/rusomj.2022.0101","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":21426,"journal":{"name":"Russian Open Medical Journal","volume":" ","pages":""},"PeriodicalIF":0.2000,"publicationDate":"2022-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Overview Of Current NGS Testing For Male Factor Infertility\",\"authors\":\"M. Levkova, T. Chervenkov, M. Hachmeriyan, L. Angelova\",\"doi\":\"10.15275/rusomj.2022.0101\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":21426,\"journal\":{\"name\":\"Russian Open Medical Journal\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2022-03-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Russian Open Medical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15275/rusomj.2022.0101\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Russian Open Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15275/rusomj.2022.0101","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
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.
期刊最新文献
MiR-134 And MiR-106b Are Circulating Biomarkers For Temporal Lobe Epilepsy: Pilot Study Results How Different Is The Status Of Depression And Anxiety In Patients With Rheumatoid Arthritis Receiving Methotrexate With Sulfasalazine Or Hydroxychloroquine? Choosing Data Clustering Tools For GIS-Based Visualization Of Disease Incidence In The Population Blood-Derived Exosomes With Anti-Inflammatory Properties As A New Minimally Invasive Intratesticular Therapy For Aflatoxin B1-Associated Chronic Testopathy Orthovoltage X-Ray Therapy Significantly Reduces Disability Risk In Knee Osteoarthritis Patients: A Decade-Long Cohort Study
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1