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By Mayo Clinic staffIn many cases, genetic testing requires only a blood sample. A member of your health care team will obtain the sample by inserting a needle into a vein in your arm. For newborn screening tests, a blood sample will be taken by pricking your baby's heel. In some situations, a swab sample from the inside of your cheek may be needed for genetic testing. Rarely, a skin or muscle biopsy might be necessary.
Prenatal genetic tests may require a sample of the amniotic fluid or placenta using amniocentesis or chorionic villus sampling. During amniocentesis, your health care provider will insert a thin, hollow needle through your abdominal wall and into your uterus. A small amount of amniotic fluid will be withdrawn into a syringe, and the needle will be removed. During chorionic villus sampling, your health care provider will take 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.
The blood or tissue sample is sent to a lab for analysis.
- Frequently asked questions about genetic testing. National Human Genome Research Institute. http://www.genome.gov/19516567. Accessed Nov. 3, 2008.
- Genetics home reference: Genetic testing handbook. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/handbook/testing/genetictesting. Accessed Nov. 3, 2008.
- Hunter DJ, et al. Letting the genome out of the bottle — Will we get our wish? The New England Journal of Medicine. 2008;358:106.
- Ensenauer RE, et al. Medical genomics: Primer on medical genomics part VIII: Essentials of medical genetics for the practicing physician. Mayo Clinic Proceedings 2003;78:846.
- Gene testing: Human Genome Project information. Human Genome Program. http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtml. Accessed Nov. 3, 2008.
- Kaye CI. Newborn screening fact sheets. Pediatrics. 2006;118:934.
- Pinksy, L. Overview of genetic assessment. http://www.uptodate.com/home/index.html. Accessed Nov. 3, 2008.
- Genetic testing: What it means for your health & for your family's health. National Human Genome Research Institute. http://www.genome.gov/Pages/Health/PatientsPublicInfo/GeneticTestingWhatItMeansForYourHealth.pdf. Accessed Nov. 3, 2008.
- Understanding cancer series: Gene testing. National Cancer Institute. http://www.cancer.gov/cancertopics/understandingcancer/genetesting. Accessed Nov. 12, 2008.
