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

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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

Prevention of recessive diseases in all of the country's ethnic groups is the focus of Israel's national carrier screening programme—one of the most comprehensive in the world.2 In additional you can test for 301 genes for only $250 USD.

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

  • 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

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Broad carrier screen

Analyzes 46 genes

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Comprehensive carrier screen

Analyzes 288 genes

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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*
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*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. 

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

Pricing

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

Support

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

  • For more information visit: www.invitae.com/contact

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 180-947-0122 if you would like to review patient cases or differentiate between testing options.

  • 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

References

  1. Wojcik MH, et al. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 Aug 8. [Epub ahead of print]

  2. State of Israel Ministry of Health. Recommendations for Genetic Testing. https://www.health.gov.il/English/Topics/Genetics/checks/Pages/GeneticTestingRecommendations.aspx. Accessed November 2019.