Invitae carrier screening

The insight your patients need to prepare for tomorrow

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Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Carrier screening uncovers actionable results, leading to more reproductive options for your patients.


  • Carrier screening before pregnancy can provide patients with more reproductive options including:
    • Pursuing additional screening
    • IVF
    • Adoption


  • Carrier screening during pregnancy can help patients better prepare for the birth of their child including:
    • Pursuing additional screening
    • Access to patient/family support groups

Invitae provides high-quality, affordable and actionable carrier screening for your patients. Start an order today >

Who to test

Clear society guidelines identify patients that should be screened.

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Test options

Pre-curated, guidelines-based panels with options to customize to meet patient needs

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Invitae advantage

Fast, affordable, high-quality genetic testing you can count on

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Identify patients who can benefit from genetic testing

The American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) recommend that information about carrier screening be provided to all women who are pregnant or planning to become pregnant.

Carrier screening can provide important information for people who:

  • are currently pregnant or planning a pregnancy

  • are at increased risk for a specific disorder based on their ethnicity

  • have a family history of a genetic disorder

  • planning to donate eggs, sperm, or embryos

  • would like additional information about the reproductive risks of having a child with a genetic disorder

Expert-curated and customizable carrier panels

We believe that carrier screening should be a conversation between you and your patient to determine the most appropriate test for each patient based on family history, ethnicity, and desire for additional information about reproductive risks.

Invitae’s carrier panels include:

  • Severe and prevalent disorders seen across all ethnicities

  • Enhanced SMA testing to help identify silent carriers

  • Comprehensive fragile X analysis, including AGG interruptions 

  • ACOG- and ACMG-recommended disorders

  • Full gene sequencing with deletion and duplication analysis

  • Actionable results; no reporting of variants of unknown significance

  • The ability to order a curated panel or customize an order for a specific patient

  • Results in 10 to 21 days, on average

Core carrier screen

Analyzes 3 genes


Broad carrier screen

Analyzes 47 genes


Comprehensive carrier screen

Analyzes 289 genes

Test description Includes the most commonly ordered genes associated with disorders seen across all ethnicities Appropriate for patients of all ethnicities who want to screen for common and severe disorders For patients of all ethnicities who want an expanded assessment of their risk of having an affected child
ACOG- & ACMG-recommendations

Disorders included Cystic fibrosis
Spinal muscular atrophy
Fragile X syndrome
All disorders on the Core carrier screen plus:
  • all disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG)
  • disorders recommended by national Jewish societies
  • prevalent disorders with an elevated carrier frequency across ethnicities
  • well-defined disorders that may have a severe impact on quality of life
All disorders on the Broad carrier screen plus:
  • a selection of disorders found on the newborn screen
# of X-linked disorders 1* 5* 21*

*Panels can be ordered without X-linked disorders.

Invitae Carrier Screening + Invitae NIPS

Expand your patient’s early prenatal care. Easily add Invitae Non-invasive Prenatal Screening (NIPS) to your carrier screening order to discover even more insights from one streamlined specimen collection kit. 

ACOG recommends offering NIPS to all pregnant women, regardless of age or risk.1,2

Learn more about Invitae NIPS

Invitae is working toward one simple goal: Making quality genetic testing accessible to those who need it.

Our low pricing options help make high-quality testing affordable:

  • In network for more than 300 million patients
  • All carrier patients have access to our benefits investigation program to choose between insurance and $250 patient-pay
  • $100 partner patient-pay discount
  • Learn more >

We’re here to help answer you and your patients’ questions and provide support every step of the way. Invitae’s team of genetic counselors are available to:

  • Help you choose the test most suitable for your patient
  • Aid in interpreting results
  • Provide post-test counseling for your patients at no additional charge
  • Learn more >

Get started

1. Request free kits for collecting patient specimens

2. Order a test using Invitae’s HIPAA-compliant online portal or on paper

  • Call Clinical Consult at 800-436-3037 if you would like to review patient cases or differentiate between testing options.

  • Patients can also contact Client Services for billing and insurance-related questions.

3. Receive an email when your results are ready (10-21 calendar days, on average)

  • If you have any questions about the results or their clinical implications, our genetic counselors are available to discuss.

Take the first step by requesting a free specimen collection kit today.

Request a kit

1. Practice Bulletin No. 163: Screening for fetal aneuploidy. Obstet Gynecol. 2016;127(5):979-81.

2. Gregg AR, Skotko BG, Benkendorf JL et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056-65.