- June 23, 2020
- Michael Allibone
- Posted in Resources
If you have a family history of genetic disorders, then a carrier screening test can bring peace of mind during your pregnancy. Certain populations are more at risk for genetic conditions than others. However, not every condition has a family history that you can trace.
Random gene mutations are to blame in many cases, and a genetic screening test can show whether or not you have one.
So what’s involved in a carrier screening test? Which genetic disorders do the tests screen for? And which populations are at risk for genetic conditions?
We’ll answer all your questions about genetic carrier screening tests to help you decide whether or not they’re right for you.
How Carrier Screening Tests Work
Genetic carrier screening involves a simple blood draw to test whether or not you and your partner are carriers for certain disorders. According to Johns Hopkins Medicine, a carrier of a genetic disorder is someone who has one normal gene and one mutated gene in a particular gene pair.
The carrier may never know he or she is a carrier for a disorder because he or she never shows any signs or symptoms of the disease. If both parents are carriers of a disorder, they can unknowingly pass down mutated genes to their children.
Carrier Screenings Look For These Disorders
At NTD Eurofins, we offer genetic carrier screening tests for many different conditions, such as:
- Spinal muscular atrophy
- Cystic fibrosis
- Fragile X syndrome
- Tay-Sachs disease
- Canavan disease
- Familial dysautonomia
- Sickle cell disease
We also offer a Pan-Ethnic Carrier Screen, a comprehensive genetic carrier screening test that looks at 141 genes for abnormalities. The test can detect mutations in genes that cause mobility problems, developmental delays, vision impairment, hearing loss, joint and bone disorders, and several others.
Once the results from your blood samples come in, your physician will likely have a genetic counselor explain the findings to you, thereby allowing you and your partner to learn more about the genetic condition in question.
Populations at Risk
Certain ethnicities are more at risk for genetic conditions than others. Sickle cell anemia, for example, occurs in one out of 10-12 people of African descent. The same group also has a greater risk of alpha-thalassemia. On the other hand, if you are of Ashkenazi Jewish descent, you are more at risk of Gaucher disease, cystic fibrosis, and Tay-Sachs disease.
However, many people are unaware of their complete ethnic backgrounds, or they come from mixed ethnicities. In those cases especially, we recommend pan-ethnic carrier screening. The test is comprehensive and includes screening for conditions that span many ethnicities.
Advantages of Carrier Screening Tests
A genetic carrier screening test only requires a simple blood draw. You don’t have to endure invasive, complicated testing, and the test comes with the advantage of genetic counseling, as well.
Additionally, with a genetic counselor reviewing your results, you’ll have the chance to fully understand any potential genetic conditions for which you may be a carrier. Many people turn to the internet for guidance on pregnancy-related conditions, but a professional explanation is much more accurate and comforting.
If you or your partner test positive as carriers, you can inform the rest of your family, too. Family members who plan to have children in the future can then prepare themselves by taking tests of their own.
Keep in mind that most genetic conditions are rare, but knowledge brings peace of mind. Genetic carrier screening tests give you the information you need to plan for your family’s future.
Talk to your health care provider about which of NTD Eurofins’ genetic carrier screening tests are right for you.
- Boston Medical Center. (n.d.). Genetic Screening: Ethnic Based. Boston Medical Center. https://www.bmc.org/genetic-services/ethnic-based
- Johns Hopkins Medicine. (n.d.). Genetic Carrier Screening. Johns Hopkins Medicine. https://www.hopkinsmedicine.org/gynecology_obstetrics/specialty_areas/fertility-center/infertility-services/genetic-screening.html
- World Health Organization (n.d.). Genes and human diseases. World Health Organization. https://www.who.int/genomics/public/geneticdiseases/en/index2.html
The information provided represents the general opinions of NTD Eurofins and is not intended to be used as specific advice for any one individual. Individuals should always consult with a physician to obtain specific advice and to receive answers to any and all questions or concerns related to health, wellness, pregnancy, and birth.
Pursuant to applicable federal and/or state laboratory requirements, Eurofins NTD, LLC has established and verified the accuracy and precision of its testing services. Tests are developed and performance characteristics determined by Eurofins NTD, LLC. The methods and performance characteristics have been reviewed and approved by the New York State Department of Health.