Sema4 Elements®

Expanded Carrier

Comprehensive carrier screening with
personalized residual risk

Sema4 Elements® Expanded Carrier Screen with Personalized Residual Risk (ECS) solution, our latest advancement in carrier screening, provides a patient’s residual risk assessment based on their molecular ancestry rather than self-reported ethnicity, for better accuracy. It offers a variety of flexible panel sizes, with screening for up to 502 genes, and may be easily customized to address specific clinical needs. With its advanced platform, Sema4 Elements® ECS enables providers to identify more at-risk pregnancies and maximize the opportunity for couples to make informed reproductive decisions.

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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.


When assessing risk, precision matters. Our advanced sequencing technologies are >99% accurate. Learn more about our technologies in our validation summary.

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Sema4 Elements® ECS includes personalized residual risk reporting based on a patient’s molecular ancestry. Learn about our approach in our validation summary.

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Sema4 Elements® ECS provides highly accurate insight into carrier status for up to 502 genes

Designed to maximize clinical utility

​All conditions included on Sema4 Elements® ECS panels met strict criteria for inclusion.

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Early-onset and severe (or)

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

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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 Elements® ECS
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. Sema4 Elements® ECS 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.


How can genetic ancestry be incorporated into Expanded Carrier Screening to enhance reproductive counseling and augment Personalized Residual Risk results?

View the latest Sema4 Research Highlight showcasing the first report, presented at the 2022 ACMG Annual Clinical Genetics Meeting, to use genetic ancestry to deliver accurate personalized residual risks to learn how:

  • Sema4 created, validated, and implemented a novel ancestry-calling component into the Sema4 Elements® Expanded Carrier Screen to improve the accuracy of residual risk reporting
  • Discrepancies between self-reporting of ethnicity and genetic ancestry can impact appropriate reproductive risk and genetic counseling
  • These findings support evaluating genetic ancestry beyond individual reporting of ethnicity to yield optimal insights into residual risk

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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Validation Summary
Read our Validation Summary on Sema4 Elements® ECS.

ECS Interactive Lookup Tool

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

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Patient Perspectives


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.

*Expanded Carrier Screening (502 genes) with Personalized Residual Risk [Validation Summary]. Sema4 (2021).