What you can expectBy Mayo Clinic staff
Your doctor, medical geneticist or nurse practitioner may select, order or administer a genetic test. A sample of your blood, skin, amniotic fluid or other tissue will be collected and sent to a lab for analysis.
- Blood sample. A member of your health care team obtains the sample by inserting a needle into a vein in your arm. For newborn screening tests, a blood sample is taken by pricking your baby's heel.
- Cheek swab. In some situations, a swab sample from the inside of your cheek is collected for genetic testing.
- Amniocentesis. This prenatal genetic test relies on a sample of the amniotic fluid. During amniocentesis, your doctor inserts a thin, hollow needle through your abdominal wall and into your uterus. A small amount of amniotic fluid is then withdrawn into a syringe, and the needle is removed.
- Chorionic villus sampling. For this prenatal genetic test, your doctor takes a tissue sample from the placenta. Depending on your situation, the sample may be taken with a tube (catheter) through your cervix or through your abdominal wall and uterus using a thin needle.
- Genetic testing. Genetics Home Reference. http://ghr.nlm.nih.gov/handbook/testing. Accessed Nov. 20, 2010.
- Frequently asked questions about genetic testing. National Human Genome Research Institute. http://www.genome.gov/19516567. Accessed Nov. 20, 2010.
- BRCA1 and BRCA2: Cancer risk and genetic testing. National Cancer Institute. http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA. Accessed Nov. 20, 2010.
- Raby BA, et al. Genetic counseling and testing. http://www.uptodate.com/home/index.html. Accessed Nov. 20, 2010.