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":null,"pages":null},"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\":null,\"pages\":null},\"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}
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.
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.