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 impa...

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Main Authors: Mariya Levkova, Trifon Chervenkov, Mari Hachmeriyan, Lyudmila Angelova
Format: Article
Language:English
Published: Limited liability company «Science and Innovations» (Saratov) 2022-03-01
Series:Russian Open Medical Journal
Subjects:
Online Access:https://romj.org/node/452
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author Mariya Levkova
Trifon Chervenkov
Mari Hachmeriyan
Lyudmila Angelova
author_facet Mariya Levkova
Trifon Chervenkov
Mari Hachmeriyan
Lyudmila Angelova
author_sort Mariya Levkova
collection DOAJ
description 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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publishDate 2022-03-01
publisher Limited liability company «Science and Innovations» (Saratov)
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spelling doaj-art-049a609cf9c6411ab4f0b529e497d7d82025-08-20T03:19:17ZengLimited liability company «Science and Innovations» (Saratov)Russian Open Medical Journal2304-34152022-03-01111e010110.15275/rusomj.2022.0101Overview of current NGS testing for male factor infertilityMariya LevkovaTrifon ChervenkovMari HachmeriyanLyudmila AngelovaAim — 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.https://romj.org/node/452male infertilitynext-generation sequencingpanel testing
spellingShingle Mariya Levkova
Trifon Chervenkov
Mari Hachmeriyan
Lyudmila Angelova
Overview of current NGS testing for male factor infertility
Russian Open Medical Journal
male infertility
next-generation sequencing
panel testing
title Overview of current NGS testing for male factor infertility
title_full Overview of current NGS testing for male factor infertility
title_fullStr Overview of current NGS testing for male factor infertility
title_full_unstemmed Overview of current NGS testing for male factor infertility
title_short Overview of current NGS testing for male factor infertility
title_sort overview of current ngs testing for male factor infertility
topic male infertility
next-generation sequencing
panel testing
url https://romj.org/node/452
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AT trifonchervenkov overviewofcurrentngstestingformalefactorinfertility
AT marihachmeriyan overviewofcurrentngstestingformalefactorinfertility
AT lyudmilaangelova overviewofcurrentngstestingformalefactorinfertility