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Updated: May 12, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Next-Generation Sequencing Infertility Panel in Turkey: First Results.

E Ikbal Atli1, S Yalcintepe1, E Atli1

  • 1Trakya University, Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey.

Balkan Journal of Medical Genetics : BJMG
|March 12, 2025
PubMed
Summary
This summary is machine-generated.

Genetic testing using next-generation sequencing (NGS) panels can identify genetic variants in infertile males. This study found 58 clinical variants in 28 genes among 41 patients, aiding male infertility diagnosis.

Keywords:
Genetic causes of male infertilityMale infertilityNGS diagnosis

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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.