Invitae carrier screening


The insight your patients need to prepare for tomorrow

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Invitae carrier screening


The insight your patients need to prepare for tomorrow

view tests

Reproductive options:

Carrier screening before pregnancy can provide patients with more reproductive options including:

  • Pursuing additional screening

  • IVF

  • Adoption

Be prepared:

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

Who to test

Clear society guidelines identify patients that should be screened.

Test options

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

Invitae advantage

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

Identify patients who can benefit from genetic testing

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recommends that information on carrier screening for genetic conditions should be offered to all women planning a pregnancy or in the first trimester of pregnancy.2

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

  • 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. 

RANZCOG recommends that all pregnant women should be provided with information and have timely access to screening tests for fetal chromosome and genetic conditions. Prenatal screening options should be discussed and offered in the first trimester whenever possible.2

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:

  • Invitae offers flexible billing options including institutional pricing

  • Patient-pay options are as low as $250 USD for carrier and $99 USD for NIPS

  • We offer $100 USD partner patient-pay for carrier screening


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:

  • Invitae's comprehensive clinical support lets you spend more time doing what you do best—caring for your patients

  • Our team of genetics experts is available to answer patients general questions about testing

Get started

1. Healthcare providers can request free kits for collecting patient specimens

2. Healthcare providers can order a test using Invitae’s HIPAA-compliant online portal or on paper

  • Call Clinical Consult at 1800-961-370 if you would like to review patient cases or differentiate between testing options (you can also email

  • Patients can also contact Client Services.

3. Healthcare providers will receive an email when the results are ready (within 10-21 calendar days)

Additional resources

Carrier screening clinician guide

Carrier screening patient guide

Carrier detection rates


  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.