Premature Ovarian Failure Panel

Premature ovarian failure (POF, also known as primary ovarian insufficiency) is a common cause of infertility in women, characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age of 40. Patients often have follicle-stimulating hormone (FSH) levels in the postmenopausal range. Ovarian function may be intermittant, and spontaneous conceptions have been reported in 5-10% of patients with POF. POF is a common disease, occurring in 1% of all women and 0.1% of women below the age of 30 years. Potential causes for POI are iatrogenic (ovarian surgery, radiotherapy or chemotherapy), environmental factors, viral infections, metabolic and autoimmune diseases, and genetic alterations.  Premutation in the fragile-X mental retardation (FMR1) gene, located at Xq27.3, is the most commonly known congenital cause of POF.  This panel includes sequence and deletion/duplication anaysis of the listed genes. This panel also includes repeat expansion testing of the FMR1 gene.