Genetic Testing and Screening

Test Overview

A genetic test checks the DNA of your cells. It can find changes in your genes or chromosomes that may cause a genetic illness. The results may tell you about your ancestry, your health, or your risk for certain diseases.

Testing can be done on a single gene, selected genes, or all of your genes (your genome). The test can look for a single change in a gene or check the entire gene or chromosome for changes.

Genetic screening tests include prenatal screening and carrier screening. Prenatal screening checks your fetus for an increased risk for genetic conditions. Carrier screening shows if an adult carries a gene change that could be passed along to their child.

You inherit half of your genetics from each birth parent. Genes determine things like your blood type, hair color, and eye color. Genes can also affect your response to medicines.

What are the main types of genetic testing?

Genetic tests include:

  • Carrier testing. This looks for gene changes that a person might pass along to their child.
  • Prenatal screening and testing. This checks if a fetus is at risk for or has a condition like Down syndrome.
  • Predictive testing. This is done to see if a person has a genetic change that increases their risk for developing a disease such as Huntington disease, Opens dialog.
  • Forensic testing. This is used to identify family members, crime suspects, and victims of crime, war, or disasters.
  • Diagnostic testing. This may be used to confirm a specific genetic illness when a person has symptoms of a disease.
  • Pharmacogenomic testing. This is done to see if a person has gene changes that might affect how their body reacts to a specific medicine.
  • At-home genetic testing. This may offer information on ancestry, personal traits, lifestyle factors, and disease risks.

How can genetic counseling help?

The results of genetic testing can affect your life. Genetic counselors are trained to help you understand your risk of getting genetic diseases or having a child with an inherited disease, such as cystic fibrosis. It may be a good idea to get genetic counseling before deciding to have testing.

Genetic counseling may involve:

  • Discussing what problems an inherited disease may cause.
  • Teaching you and your partner about how a specific disease is inherited or passed from you to your child.
  • Discussing whether and how to test for an inherited disease before you become pregnant or before your child is born.
  • Discussing the likelihood that you and your partner will have a child with an inherited disease, based on test results.

Medical geneticists and genetic counselors are trained to help you and your family make informed decisions that are right for you. They are sensitive to physical and emotional aspects of these decisions. Your privacy and confidentiality are carefully protected.

Information about Genetic Testing and Screening

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