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Single Gene Screening and Carrier Genetics

If you’re thinking about starting a family, there are a lot of things to consider. Choosing whether or not to participate in genetic carrier testing is one of these things. Genetic carrier testing can help determine your risk of passing a hereditary genetic disorder on to your baby. 

There are a variety of different carrier screening tests, but if you have a family history of a specific health problem––such as cystic fibrosis––you may want to consider single gene screening. This safe, noninvasive genetic test directly targets specific genetic disorders.

What is single gene screening?

Single gene testing is a type of genetic carrier screening that provides thorough analysis of one, distinct gene. You might benefit from single gene screening if you have a family history of a particular hereditary genetic disorder. 

What can single gene screening test for?

Single gene screening is capable of detecting more than 110 different hereditary genetic disorders. However, the three most common conditions single gene screening tests for are:

  • Cystic fibrosis
  • Fragile X syndrome
  • Spinal muscular atrophy

Other conditions that single gene screening can detect include Tay-Sachs disease, Bloom Syndrome, Glycogen storage disease, and Usher syndrome.

Who should participate in a single gene screening test?

The American Congress of Obstetricians and Gynecologists (ACOG) recommends carrier screening for all women who are already pregnant or thinking about getting pregnant.

Even if you’re relatively healthy, and aren’t a member of an at-risk ethnic group, you should still consider participating in a single gene screening test for spinal muscular atrophy and cystic fibrosis. Single gene screening provides quick and accurate results, and can help you better plan for your baby’s arrival. 

What are the benefits of single gene screening compared to other options?

Single gene screening provides a number of benefits compared to traditional carrier screening. Single gene screening is more cost-effective, because it minimizes the need for unnecessary testing of other genes. In addition, single gene screening works to pinpoint only one condition. As a result, you’re less likely to learn about potential health risks unrelated to your pregnancy. 

How do I know if single gene screening is right for me?

To determine if you’re a good candidate for single gene screening, make an appointment with your OB/GYN, general practitioner, or genetic counselor. Following an exam and review of your medical history, your provider can determine what type of genetic testing you’ll most benefit from. 

If you’re already pregnant or thinking about getting pregnant, don’t hesitate to discuss single gene screening with your OB/GYN, genetic counselor, or general practitioner. The more you know about your health and the health of your baby, the better you can prepare for parenthood.

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