Primary ovarian insufficiency (POI) is characterized by loss of ovarian function before 40 years of age, resulting in menstrual irregularity or amenorrhea, elevated gonadotropins, reduced estrogen production, and infertility. Clinical presentation ranges from isolated ovarian insufficiency to syndromic disorders involving hearing loss, neurologic disease, or other organ systems.

This panel includes genes associated with the major causes of isolated and syndromic primary ovarian insufficiency, including disorders of ovarian development, folliculogenesis, meiosis, DNA repair, mitochondrial function, and gonadotropin signaling. Representative genes include FMR1, FOXL2, NOBOX, BMP15, GDF9, FSHR, MCM8, MCM9, STAG3, and NR5A1.

This panel is recommended for patients with premature ovarian insufficiency, infertility, elevated FSH, diminished ovarian reserve, primary or secondary amenorrhea, or a family history suggestive of hereditary ovarian failure.