MALE INFERTILITY: CLINICAL EXOME PANEL (Sec. & CNVs) – 318 genes

The Male Infertility Panel is designed for the comprehensive genetic diagnosis of hereditary causes of oligozoospermia, azoospermia, teratozoospermia, asthenozoospermia, or idiopathic infertility, in both isolated and syndromic forms. These alterations can result from defects in spermatogenesis, epididymal maturation, sperm motility, ciliary function, or gonadotropic hormonal regulation. The study includes genes involved in testicular determination and differentiation (SRY, SOX9, NR5A1, DMRT1, WT1, MAP3K1, AR, NR0B1), in sperm production and maturation (DAZ1-4, DDX3Y, CDY1, CDY2, TEX11, MSH4, MSH5, MLH3, STAG3, SYCP3), in sperm morphology and motility (DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAAF1-5, CFAP298, RSPH1, RSPH4A, RSPH9, DPY19L2, CATSPER1, CATSPER2, PLK4), in the endocrine regulation of the hypothalamic-pituitary-gonadal axis (KISS1, KISS1R, TAC3, TACR3, GNRH1, GNRHR, FSHB, FSHR, LHB, LHCGR, CYP11A1, CYP17A1, CYP19A1, HSD17B3, HSD3B2, NR3C1), as well as genes associated with ciliopathies and multisystemic syndromes with infertility (BBS1, BBS10, CEP290, MKKS, OFD1, RPGRIP1L, IFT172). The detection of pathogenic variants in these genes allows for the identification of the molecular cause, differentiation between obstructive and non-obstructive forms, optimization of assisted reproduction strategies, assessment of the risk of genetic transmission, and the provision of personalized reproductive counseling. Key genes analyzed: DAZ1, TEX11, NR5A1, DMRT1, AR, CATSPER1, DNAH1, CFAP298, DPY19L2, FSHR, LHCGR, KISS1, TAC3, and others. You can consult the complete list of analyzed genes by contacting Genotica.