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

Area of Science:

• Genetics
• Reproductive Medicine
• Genomic Medicine

Background:

• Male infertility is a complex condition with over 2000 implicated genes.
• Genetic factors significantly contribute to the etiology of male infertility.
• Next-generation sequencing (NGS) offers a powerful tool for genetic diagnosis in male infertility.

Purpose of the Study:

• To evaluate the utility of a custom-designed NGS gene panel for identifying genetic variants in male infertility.
• To assess the diagnostic yield of targeted gene sequencing in a cohort of infertile males.

Main Methods:

• Development and application of a 132-gene NGS panel for 85 infertile male patients.
• The panel investigated genetic causes including spermatogenesis failure, hypogonadism, and primary ciliary dyskinesia.
• NGS analysis was performed on all primary infertility cases.

Main Results:

• Genetic variants were detected in 41 out of 85 patients (48.23%).
• A total of 58 clinical variants were identified across 28 different genes.
• The study highlights the prevalence of detectable genetic causes in infertile males.

Conclusions:

• Custom-made NGS panels can significantly enhance genetic diagnostic testing for male infertility.
• Identification of genetic variants impacts the clinical management and understanding of male infertility.
• NGS-based genetic testing is a valuable diagnostic approach for male reproductive health.