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 takes 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. For some tests, a swab sample from the inside of your cheek is collected for genetic testing.
- Amniocentesis. In this prenatal genetic test, your doctor inserts a thin, hollow needle through your abdominal wall and into your uterus to collect a small amount of amniotic fluid for testing.
- 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.
June 08, 2017
- National Library of Medicine. Help me understand genetics. Genetics Home Reference. https://ghr.nlm.nih.gov/primer. Accessed Feb. 13, 2017.
- Frequently asked questions about genetic testing. National Human Genome Research Institute. https://www.genome.gov/19516567/faq-about-genetic-testing/. Accessed Feb. 13, 2017.
- Genetic testing for hereditary cancer syndromes. National Cancer Institute. https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet. Accessed Feb. 13, 2017.
- Raby BA, et al. Genetic testing. http://www.uptodate.com/home. Accessed Feb. 13, 2017.
- Grody WW, et al. ACMG position statement on prenatal/preconception expanded carrier screening. Genetics in Medicine. 2013;15:482.
- Genetic testing. American Medical Association. https://www.ama-assn.org/content/genetic-testing. Accessed Feb. 13, 2017.
- Frequently asked questions. Prenatal genetic diagnostic tests. FAQ164. Pregnancy. American College of Obstetricians and Gynecologists. https://www.acog.org/-/media/For-Patients/faq164.pdf?dmc=1&ts=20161216T1208042192. Accessed Feb. 13, 2017.
- Breast cancer risk factors you cannot change. American Cancer Society. https://www.cancer.org/cancer/breast-cancer/risk-and-prevention/breast-cancer-risk-factors-you-cannot-change.html. Accessed Feb. 21, 2017.
- Atwal PS (expert opinion). Mayo Clinic, Jacksonville, Fla. Feb. 24, 2017.