Comprehensive genetic testing for female and male infertility using next-generation sequencing.

ABSTRACT:

Purpose

To develop a comprehensive genetic test for female and male infertility in support of medical decisions during assisted reproductive technology (ART) protocols.

Methods

We developed a next-generation sequencing (NGS) gene panel consisting of 87 genes including promoters, 5' and 3' untranslated regions, exons, and selected introns. In addition, sex chromosome aneuploidies and Y chromosome microdeletions were analyzed concomitantly using the same panel.

Results

The NGS panel was analytically validated by retrospective analysis of 118 genomic DNA samples with known variants in loci representative of female and male infertility. Our results showed analytical accuracy of > 99%, with > 98% sensitivity for single-nucleotide variants (SNVs) and > 91% sensitivity for i

SUBMITTER: Patel B 

PROVIDER: S-EPMC6086787 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature