Estrogen is the primary female sex hormone as well as a medication. It is responsible for the development and regulation of the female reproductive system and secondary sex characteristics. There are three major endogenous estrogens in women and men: estrone, estradiol, and estriol. This test does not specify each of these estrogens.

Quest Diagnostics test code 17911 is for a DNA mutation analysis of Methylenetetrahydrofolate Reductase (MTHFR). The test determines if a patient has one, two, or no copies of either of the two mutations in the MTHFR gene, C677T and A1298C.

Changes in the methylenetetrahydrofolate reductase gene can lead to certain health conditions. One of them is hyperhomocysteinemia (high blood levels of homocysteine), which is a risk factor for cerebrovascular disease, cerebral vein thrombosis, coronary artery disease, myocardial infarction, and venous thrombosis. At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process certain amino acids properly.