Carrier screening determines a child’s risk of inheriting genetic conditions Carrier screening determines a child’s risk of inheriting genetic conditions

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.
Carrier screening determines a child’s risk of inheriting genetic conditions

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
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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 288 disorders with three options for Invitae carrier screening:

Comprehensive carrier screen

Available online or through your healthcare provider 

Tests 288 genes (including those in the core carrier screen) and is appropriate for all people who want a more comprehensive carrier screen. 

Broad carrier screen

Available through your healthcare provider

Tests up to 46 genes (including those in the core carrier screen) and is appropriate for anyone who wants to be screened for disorders that are severe, prevalent and well-defined. 
 

Core carrier screen

Available through your healthcare provider

Covers some of the most common and severe disorders seen across all ethnicities including:

  • cystic fibrosis
  • fragile X syndrome
  • spinal muscular atrophy

Get a carrier test in two easy ways

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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.  

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Order through your healthcare provider

Talk to your healthcare provider about carrier screening with Invitae. This letter can help start the conversation.

Flexible billing

Insurance

We accept insurance from most providers, and will work directly with your insurance company so you don’t have to.  Learn more.

Note: Insurance billing is only available when carrier screening is ordered through your own doctor.

Self-pay

Don’t have insurance? We offer $250 pricing and accept HSA/FSA payments. If your results indicate that your partner needs testing too, their price is just $100. Learn more.

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 
     
Carrier screening determines a child’s risk of inheriting genetic conditions

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. 

Stay connected with our online portal

Track your test

Track your test's progress from the moment it's ordered to when you receive results.

Learn about genetics

Access educational resources including videos to help you prepare for and understand your results.

Share your results

We've made it easy to securely share your results with your healthcare provider(s) so you can take action.

Carrier screening determines a child’s risk of inheriting genetic conditions

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.