Carrier screening
Determine your child’s risk of inheriting a genetic disease
Carrier screening is for everyone, including healthy adults
- Carrier screening—before or during pregnancy—can let you and your partner know if your child is at risk of inheriting a genetic disease.
- A carrier is someone who has one altered copy of a gene, called a variant, that is associated with a disease that could be passed down to a child.
- It is normal to be a carrier, even if you are healthy and do not experience any symptoms.
- Most of us are carriers of at least one genetic disease.
- For most diseases, both you and your partner have to be carriers for the same condition for your children to be at increased risk.
When to consider carrier screening
Carrier screening is for anyone who would like to understand their risk of having a child with a genetic disorder.
It’s also recommended for people who:
- have a family history of a genetic disorder
- are at increased risk for a specific disorder based on their ethnicity, including Ashkenazi Jewish populations
- are planning to donate eggs, sperm, or embryos
Everything you need to know
Join certified genetic counselor Julia Wilkinson, M.S., for an in-depth walkthrough of carrier screening. You can also view a list of all the disorders we test for here.
Find the right test for you
Test for up to 289 disorders with three options for Invitae carrier screening:
Get a carrier test in two easy ways
Order online
Order a comprehensive carrier screen online and receive your saliva sample collection kit in the mail. An independent doctor or genetic counselor will review your information to make sure your test is right for you.
Order through your healthcare provider
Talk to your healthcare provider about carrier screening with Invitae. This letter can help start the conversation.
Reproductive options for at-risk couples
If your results show that you are at increased risk of having a child with one of the disorders screened, it is important to know that there are options available to you depending on where you are in your reproductive journey. These may include:
- continuing to follow your current family planning and pregnancy plans
- undergoing prenatal testing during pregnancy
- in vitro fertilization (IVF) with preimplantation genetic testing (PGT) to identify suitable embryos
- conception through egg, sperm, or embryo donation
More than a test:
Built-in support network
You don’t have to figure it out alone. Genetics experts are available to guide you through the testing process, help you make sense of your results, and plan a path forward.
Your questions, answered
Our resource center offers:
- answers to common questions about genetic testing
- this helpful guide to carrier screening
- details on how the testing process works
- an explanation of possible results and what they could mean for you
References:
1. Blythe SA, et al. Clin Biochem. 1984;17(5):277-283
2. Prior, Thomas W. 2008. “Carrier Screening for Spinal Muscular Atrophy.” Genetics in Medicine: Official Journal of the American College of Medical Genetics 10 (November). The American College of Medical Genetics: 840
3. Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine.” 2017. Obstetrics and Gynecology 129 (3): 595–96.
