• PMID: 29779145
• Gene Name: FMR1
• Condition: Male infertility
• Association: Associated
• Mutation: CGG repeat size of 645, CGG repeats >200, CGG repeat size of 477, CGG repeats range from 501-550,CGG repeats range from 931-940, CGG repeat size of 23
• Sex: Male
• Infertility type: Male infertility
• Associated genes: GALT, F5

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

Patel B, Parets S, Akana M, Kellogg G, Jansen M, Chang C, Cai Y, Fox R, Niknazar M, Shraga R, Hunter C, Pollock A, Wisotzkey R, Jaremko M, Bisignano A, Puig O.

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 insertions/deletions (indels). Clinical sensitivity was assessed with samples containing variants representative of male and female infertility, and it was 100% for SNVs/indels, CFTR IVS8-5T variants, sex chromosome aneuploidies, and copy number variants (CNVs) and > 93% for Y chromosome microdeletions. Cost analysis shows potential savings when comparing this single NGS assay with the standard approach, which includes multiple assays. CONCLUSIONS: A single, comprehensive, NGS panel can simplify the ordering process for healthcare providers, reduce turnaround time, and lower the overall cost of testing for genetic assessment of infertility in females and males, while maintaining accuracy. FAU - Patel, Bonny AU - Patel B AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Parets, Sasha AU - Parets S AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Akana, Matthew AU - Akana M AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Kellogg, Gregory AU - Kellogg G AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Jansen, Michael AU - Jansen M AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Chang, Chihyu AU - Chang C AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Cai, Ying AU - Cai Y AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Fox, Rebecca AU - Fox R AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Niknazar, Mohammad AU - Niknazar M AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Shraga, Roman AU - Shraga R AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Hunter, Colby AU - Hunter C AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Pollock, Andrew AU - Pollock A AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Wisotzkey, Robert AU - Wisotzkey R AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Jaremko, Malgorzata AU - Jaremko M AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA. FAU - Bisignano, Alex AU - Bisignano A AD - Phosphorus, Inc., 1140 Broadway St, New York, NY, 10001, USA.