FEMALE INFERTILITY: CLINICAL EXOME PANEL (Sec. & CNVs) – 311 genes

The Female Infertility Panel is designed for the comprehensive genetic diagnosis of hereditary causes that lead to alterations in ovulation, follicular development, fertilization, embryo implantation, or hormonal function, which may manifest as chronic anovulation, premature ovarian failure, primary or secondary amenorrhea, recurrent miscarriages, or idiopathic infertility. These alterations can originate from defects in gonadal development, oocyte maturation, endocrine signaling, or communication between the oocyte and cumulus cells. The study includes genes involved in folliculogenesis and ovarian function (BMP15, GDF9, FIGLA, NOBOX, SOHLH1, PSMC3IP, FOXL2, NR5A1, FSHR, LHCGR, ESR1, ESR2), in the regulation of meiosis and DNA repair (MCM8, MCM9, STAG3, HFM1, ATM, BLM, FANCA, FANCM, POLG), in hypothalamic-pituitary signaling (KISS1, KISS1R, TAC3, TACR3, GNRHR, FSHB, LHB, POU1F1, PROP1), in ciliary function and tubal transport (DNAAF1-5, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, CFAP298, DNAAF3), in gamete-gamete interaction and fertilization (ZP1, ZP2, ZP3, PADI6, TUBB8, PLCZ1) and in multisystemic syndromes affecting female fertility, such as Bardet-Biedl, Alström, Joubert, or related ciliopathies (BBS1, BBS10, BBS12, CEP290, TMEM67). Identifying pathogenic variants allows for establishing an etiological diagnosis, guiding assisted reproduction strategies, assessing the risk of genetic transmission, and personalizing clinical and reproductive management. Key genes analyzed: BMP15, GDF9, FIGLA, FOXL2, NR5A1, FSHR, LHCGR, ESR1, ESR2, MCM8, MCM9, KISS1, TAC3, ZP1, ZP3, and others. A complete list of analyzed genes can be obtained by contacting Genotica.