- 1). Schedule an appointment with a doctor to undergo a genetic test for a specific disease. Given the wide variety of tests available, testing can be practically done only if the genetic material is being examined for a specific disease. A primary care physician, specialist, medical geneticist or nurse practitioner can order a genetic test.
- 2). Provide a sample to the doctor that contains genetic material. Usually this is done by taking a small tissue sample. Blood, hair and skin are common tissue samples, and if the test is being performed on a fetus before birth, amniotic fluid also contains genetic material that can be tested against certain diseases.
- 3). Give permission for the tissue sample to be sent to a lab specializing in genetic tests. Your health care professional will do this. There, researchers will derive the genetic information from that tissue sample, and then examine it for any damage, deficiencies or irregularities in the area where the disease in question would occur. If the test comes back positive, the disease is of genetic origin. If it is negative, it is likely caused by external factors.
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