Next-Generation Sequencing Infertility Panel in Turkey: First Results.

Background: Male infertility is a complex pathophysiological disorder. At least 2000 genes are implicated in the etiology of male infertility, making it a very complex genetic condition. In cases of male infertility, genetic testing using next-generation sequencing (NGS) technology may be useful for diagnosis. Thus, the purpose of this investigation was to apply the diagnostic offer for genetic variant identification using an NGS panel.

Methods: We developed an NGS gene panel that we used in 85 infertile male patients. The panel consisted of 132 genes exploring the genetic causes of male infertility; namely spermatogenesis failure due to single-gene mutations, central hypogonadism, androgen insensitivity syndrome, congenital hypopituitarism, and primary ciliary dyskinesia etc.

Results: A total of 85 patients (85 males) between 21 year and 45 years old were included in the study group. NGS analysis had been applied in all the primary infertility cases. As a result of NGS analysis, 58 clinical variants in 28 genes were detected in 41 patients (%48.23- 41/85).

Conclusion: Consequently, pre-diagnostic genes included in a custom-made NGS panel test can enhance genetic diagnostic testing and have an impact on the clinical management of male infertility.