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
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Abstract
Background
Male infertility is a complex pathophysiological dis-
order. At least 2000 genes are implicated in the etiology
of male infertility, making it a very complex genetic con-
dition. In cases of male infertility, genetic testing using
next-generation sequencing (NGS) technology may be
useful for diagnosis. Thus, the purpose of this investiga-
tion 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, cen-
tral hypogonadism, androgen insensitivity syndrome, con-
genital 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 cus-
tom-made NGS panel test can enhance genetic diagnostic
testing and have an impact on the clinical management of
male infertility.
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