What you can expectBy Mayo Clinic staff
Your doctor, medical geneticist or nurse practitioner may administer a genetic test. Depending on the type of 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 A small amount of amniotic fluid is then withdrawn into a syringe, and the needle is removed.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.
- Handbook — Help me understand genetics. Genetics Home Reference. http://ghr.nlm.nih.gov/handbook/. Accessed May 7, 2013.
- Frequently asked questions about genetic testing. National Human Genome Research Institute. http://www.genome.gov/19516567. Accessed May 7, 2013.
- Raby BA, et al. Genetic counseling and testing. http://www.uptodate.com/home. Accessed May 8, 2013.
- Grody WW, et al. ACMG position statement on prenatal/preconception expanded carrier screening. American College of Medical Genetics and Genomics. Genetics in Medicine. In press. Accessed May 8, 2013.
- Harms RW (expert opinion). Mayo Clinic, Rochester, Minn. May 10, 2013.