Prenatal
Exome
Genome
Genetic Testing

Prenatal exome-to-genome reflex: One order. A seamless path from exome to genome

Prenatal Exome-to-Genome Reflex gives providers a flexible way to begin with exome sequencing while preserving a seamless path to genome analysis when additional answers are needed—all from one order and one sample.

Blog
News

Key takeaways

  • Start with an exome-first approach that may better align with payer requirements and patient access while preserving a seamless path to genome analysis when needed.
  • Avoid delays and administrative burden with one order and one sample, even when broader genomic analysis is clinically indicated.
  • Receive clinically relevant exome results in as soon as two weeks to support time-sensitive prenatal decision-making.

A testing pathway designed for the way prenatal care happens

Prenatal genetic testing can provide valuable insights to help clinicians understand a fetal phenotype, guide pregnancy management, and prepare families for next steps.

However, the right testing strategy is not the same for every patient.

Insurance coverage considerations, institutional requirements, clinical presentation, and provider preferences can all influence whether a clinician begins with exome or genome sequencing. Prenatal Exome-to-Genome Reflex was designed with that reality in mind.

This testing pathway allows providers to start with prenatal exome sequencing while preserving a seamless path to genome analysis when additional information is needed. If the initial exome result does not fully explain the fetal phenotype, the case automatically reflexes to genome interpretation without requiring a new order, additional specimen collection, or a restart of the testing process.

The result is a more flexible approach to prenatal genomic testing that balances speed, access, and comprehensive analysis.

Start with exome with genome ready when needed

Exome sequencing is an established tool for evaluating suspected genetic conditions and may align more closely with payer requirements than genome sequencing in some clinical situations.

With Prenatal Exome-to-Genome Reflex, providers can begin with an exome-first strategy while maintaining access to broader genome analysis if the exome interpretation does not fully explain the fetal phenotype.

The same case automatically progresses to genome interpretation, allowing care teams to expand the scope of analysis without additional administrative steps or delays. For providers and patients, the experience remains simple:

One order. One sample. A seamless path from exome to genome.

Get clinically relevant information sooner

In prenatal care, timing matters.

Prenatal Exome-to-Genome Reflex delivers exome results in as soon as two weeks, enabling providers to begin incorporating genomic findings into clinical decision-making as quickly as possible.

When additional analysis is needed, genome interpretation can be initiated immediately using the same sequencing data and specimen. Reflex genome results are available within 1 to 2 days after the exome report, helping providers access broader genomic insights without restarting the testing process.

Learn more

Explore Prenatal Exome-to-Genome Reflex and discover how GeneDx is helping prenatal providers access flexible, genome-backed testing pathways designed for real-world clinical care.

Order Prenatal Exome-to-Genome Reflex in Your EHR

Prenatal Exome-to-Genome Reflex is designed to simplify the testing experience from the start. As part of GeneDx's expanding EHR integration capabilities, providers will soon be able to order Prenatal Exome-to-Genome Reflex alongside our full prenatal testing portfolio directly within their EHR workflow.  

To learn about EHR availability and ensure your organization has access to the latest GeneDx prenatal testing capabilities, connect with your GeneDx representative.

‍

About the authors
Bryan Dechairo
,
PhD
Chief Technology and Innovation Officer
Bryan Dechairo serves as the Chief Technology and Innovation Officer at GeneDx. In his role Bryan oversees the company’s AI, Technology, and R&D innovation teams. He is responsible for driving operational excellence as the company enters the next phase of commercial growth. Bryan brings over 30 years of experience in exploratory and commercial diagnostic businesses, driving the development of revenue-generating clinical innovations that enhance patient outcomes. He most recently served as President and CEO of Sherlock Biosciences, where he successfully transformed the company from a research-stage start-up into a commercial operation. Bryan has also held executive leadership roles at prominent diagnostic and pharmaceutical companies, including Pfizer, Myriad Genetics, Assurex, Medco Health and others. Bryan holds a PhD in Human Genetics from the University College of London and a BA in Integrative Biology from the University of California Berkeley.
View profile

Related articles

Rare Disease Diagnostics
Genomics
Genetic Testing
Exome
Genome
Diagnosis Drives Action: A collaboration built on answers, clarity, and hope

Diagnosis Drives Action is a GeneDx initiative elevating the voices of patients, families, clinicians, and advocacy organizations to show how a genetic diagnosis can create a path forward—from informed care and community connection to research opportunities and hope.

Payor
New SMFM guidance advances the role of prenatal genomic sequencing

What the latest SMFM recommendations mean for health plans evaluating prenatal exome and genome sequencing coverage in selected high-risk pregnancies.

NICU
Pediatrics
Genomics
Genome
Rare Disease Diagnostics
When every minute matters: Introducing GenomeDx™ ultraRapid Duo and Trio

GeneDx has expanded its ultraRapid genome sequencing portfolio with GenomeDx™ ultraRapid duo and trio testing for critically ill infants and children. By incorporating genetic data from one or both parents, these options help clarify genetic findings and support time-sensitive clinical decisions in NICU and PICU settings.

Science that serves people

We’re scientists, but we’re also parents, siblings, and caregivers who understand how powerful an answer can be.