What is Carrier Screening?

What is genetic carrier screening?

Carrier screening provides you and your doctor with information about your reproductive risks prior to or during pregnancy. While most babies are born healthy, with each pregnancy, there is a small chance of having a baby with a severe genetic disease. Carrier screening helps determine what this chance is for you.

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Carrier Screening

What is a carrier?

Everyone has two copies of each gene, one from their mom and one from their dad. Being a carrier means that one copy of a gene has a change, called a mutation, which causes it to not work properly. Carriers still have one working copy of the gene, so they typically do not have any health problems associated with carrying a mutation. Therefore, many people can be carriers of a disease-causing mutation without even knowing it. Being a carrier, however, means there is an increased chance that your child could be born with a genetic disease.

Could I be a carrier?

Anyone can be a carrier of a genetic disease, even if no one in your family is affected. Most people don’t know they are carriers until after they’ve had screening because carriers don’t have symptoms. The chance of being a carrier is based on your ethnic background and family history; however, some diseases are fairly common regardless of these factors.

How is carrier screening done?

Carrier screening is done through a simple blood test. Your doctor will decide which tests are appropriate for you, draw 1-2 tubes of blood, and send them to our lab for testing. It typically takes about two weeks to get your test results.

Is carrier screening right for me?

Carrier screening can provide you with information that might be helpful if you:

  • Are planning a pregnancy
  • Have a family history of a genetic disorder
  • Are at increased risk for a specific condition based on ethnicity
  • Would like additional information about your reproductive risks

 

Discussing the benefits and limitations of carrier screening with a qualified health care professional, like a genetic counselor, may help you decide if carrier screening is right for you.


Learn more about:

  • Learn About Genetic Diseases

    Some genetic disorders are common regardless of your ethnic background, such as cystic fibrosis, spinal muscular atrophy and fragile X syndrome... Read More »
  • Inheritance

    What are the chances my baby will inherit a genetic disease? If you and your partner are both carriers of the same autosomal recessive disorder... Read More »