Balkan Journal of Medical Genetics

NEXT-GENERATION SEQUENCING INFERTILITY PANEL IN TURKEY: FIRST RESULTS
Ikbal Atli E1*, Yalcintepe S1, Atli E1, Demir S1, Gurkan H1
*Corresponding Author: Corresponding Author: Associate Prof. Emine Ikbal Atli, Trakya University, Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey Balkan Campus, Highway D100 ORCID ID: 0000- 0001-9003-1449; Postal code: 22030; Phone: 0(284) 235-76-41/2330; Email: emine.ikbal@gmail.com / eikbalatli@trakya.edu.tr
page: 49

INTRODUCTION

The way that male infertility is treated has undergone a significant transformation as a result of our growing understanding of the physiology of male reproduction, fertilization, and the development of increasingly potent assisted reproductive procedures. A physical exam and medical history gathering are currently part of the diag- nostic procedure provided to infertile male patients. This is followed by a mix of laboratory tests specifically chosen for each case, including a thorough genetic laboratory analysis. At least a year of infertility should precede the administration of diagnostic testing. Accordingly, a couple is considered infertile if they are unable to conceive fol- lowing a year of regular, unprotected sex. 15% of male patients who are infertile have genetic issues. Chromosome abnormalities or single gene mutations are examples of them. The Online Mendelian Inheritance in Man (OMIM) database contains information on more than 200 genetic conditions associated with male infertility (1-4). Many disorders, most notably Mendelian or uncom- mon diseases where having causal variants significantly reduces reproductive fitness, have had exceptional results using NGS (5). The candidate gene approach in model animals and whole genome investigations using single-nucleotide polymorphism microarray and next-generation sequenc- ing (NGS) technologies, such as exome or whole-genome sequencing, are the two main methods for identifying the genes responsible for infertility. The reason of male infer- tility is still unknown in up to 70% of instances, despite extensive diagnostic testing, because traditional genetic tests sometimes fall short of making a diagnosis. Recent studies appear to address how NGS technology is increas- ing the rate of male infertility diagnosis. Accordingly, it has already been established that several diagnostic genes have a role in the pathophysiology of male infertility. It may be possible to make a diagnosis with the use of pre- diagnostic genes, such as those that have been linked to male infertility but do not yet have solid proof of a causal relationship (6, 7, 8). To do this, the current study was conducted to as- sess a number of pre-diagnostic genes by contrasting the outcomes with those obtained using our standard NGS custom-made gene panel for the diagnosis of male infer- tility, which consists of 132 genes. The genes included in the gene panel are composed of genes that have been associated with infertility to date.

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