Comprehensive and accurate screening of 283 genes

Sema4 Expanded Carrier Screen (ECS) is a comprehensive carrier test that screens for more than 280 genetic diseases with sequencing technologies that are >99% accurate. This panel also includes 101 genes associated with Jewish founder mutations for comprehensive coverage for patients with Jewish ancestry.

With Sema4 Expanded Carrier Screen, carrier screening may be easily customized to address specific clinical needs. Testing can be performed for all 283 genes, a smaller subset of genes, or even just one gene. Additional molecular and biochemical diagnostic testing is also available for all genes on our carrier screening panels.

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A simple blood or saliva test allows patients to find out if they are carriers of genetic variants. At-home saliva kits are also available for your patients.

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Sema4’s comprehensive Expanded Carrier Screen provides highly accurate insight into carrier status for more than 280 inherited diseases.

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Our Expanded Carrier Screen includes personalized residual risk reporting based on a patient’s molecular ancestry. Learn more about our
approach in our validation summary.


When assessing risk, precision matters. Our Expanded Carrier Screen uses advanced sequencing technologies that are >99% accurate.

Designed to maximize clinical utility

​All conditions included on the Expanded Carrier Screen panel met strict criteria for inclusion.

Early-onset and severe (or)

Amenable to early detection, where treatment or intervention can improve lifetime management of the disease (or)

Onset in childhood or early adulthood and progressive severity

Detects more high-risk pregnancies than traditional carrier screening by identifying up to 30 times as many
carrier couples*

Traditional Carrier Screening
1 in 800

CF and SMA

Sema4 Expanded Carrier Screening
1 in 25

502 panel

ECS Interactive Lookup Tool

For information on specific genes included in our Carrier Screening panels.

Powered by advanced sequencing technologies

Nine advanced technologies are used in parallel to ensure the highest detection rate for each gene based on gene-specific mutation mechanisms. Our Expanded Carrier Screen primarily utilizes a next-generation sequencing (NGS) platform. It also incorporates accessory technologies for genes that are not amenable to NGS, including genotyping, Sanger sequencing, enzyme analysis, capillary electrophoresis, and MLPA.


Unparalleled Support

We offer services and digital tools to support you, your practice, and your patients

For providers
  • Dedicated Customer Success team to support your needs
  • Personalized services to seamlessly align with your practice workflow
  • Digital tools that make it easy to order and review test results, access detailed test information, and interface with your EMR
  • Genetic counseling services that offer education, assistance interpreting results, and guidance on care options

For patients
  • In-network with the majority of national and regional insurers
  • Patient-friendly billing policies, including competitive self-pay prices and financial assistance programs
  • We appeal coverage determinations on behalf of patients if precertification or pre-authorization requests are denied
  • Patients can track their tests, view results, and access educational materials through the Sema4 Patient Portal
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White Paper
Read our Validation Summary on Expanded Carrier Screening with Personalized Residual Risk.

ECS Interactive Lookup Tool

For information on specific genes included in our Carrier Screening panels.

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What’s coming soon

We will soon launch Expanded Carrier Screen with Personalized Residual Risk. This advanced carrier screening will offer analysis of up to 502 genes and utilizes proprietary technology to identify a patient’s molecular ancestry on a genome-wide level for tailored, personalized residual risk. Such information is critical for providers to better understand a patient’s chance for passing on inherited disease and further builds on Sema4’s gold standard Expanded Carrier Screen.

View our Coming Soon Flyer

Start the Journey with Us

Kindly fill out the form below and we’ll schedule a time to discuss your needs. Or feel free to call us at 800-298-6470.