GeneDx
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Paving the way for faster diagnoses & more precise care plans through genomic & clinical insights.
We see a world where every genetic condition is understood, and every patient receives the care they need to live their healthiest life through genomics.
GeneDx combines unmatched clinical expertise, advanced technology, and the power of GeneDx Infinity™, the world’s largest rare disease genomic dataset. This unparalleled foundation powers GeneDx’s ExomeDx™ and GenomeDx™ tests – ranked #1 by ex
06/18/2026
When a cerebral palsy diagnosis didn’t fully explain Rosie’s developmental delays, hearing loss, and complex medical history, her family kept searching for answers.
Genetic testing ultimately revealed an underlying rare condition, bringing long-awaited clarity and helping guide future care for Rosie and her family.
Read Rosie’s story to learn how genetic testing can help families and clinicians look beyond a single diagnosis when symptoms don’t fully add up.
https://genedx.co/4a7BmHP
06/17/2026
When a cystic hygroma is identified in pregnancy and CMA results are negative, a genetic diagnosis may still be within reach.
In this prenatal case study, fetal exome sequencing identified two variants in the LZTR1 gene, confirming an autosomal recessive form of Noonan syndrome (LZTR1-related RASopathy).
A molecular diagnosis can help:
✔️ Explain the ultrasound findings
✔️ Provide insight into prior pregnancy history
✔️ Inform prenatal decision-making
✔️ Support delivery and care planning
✔️ Clarify recurrence risk for future family planning
Learn how exome sequencing can provide answers when standard testing leaves questions unresolved.
Read the case study: https://genedx.co/3SLBK8L
Every child deserves the chance for a healthier future – and that starts with answers.
Today, children with a rare genetic disease wait an average of five years for an accurate diagnosis, often enduring countless specialist visits, hospitalizations, and unnecessary disease progression along the way. For many families, those lost years can never be recovered.
That's why we're proud to partner with Florida's Sunshine Genetics Newborn Screening Program, a groundbreaking initiative that will offer whole genome sequencing to newborns and expand screening from 60 conditions to hundreds.
The science is clear: earlier diagnosis changes lives. It can guide medical management, identify associated health risks, connect families to specialized care, enable participation in clinical trials, and increasingly provide access to life-changing therapies – including gene therapies. In many cases, the greatest opportunity to change the course of disease is before symptoms ever appear.
As FOX 13 Tampa Bay highlighted, this program was inspired by the story of Representative Andrew Anderson, whose family experienced the devastating reality of a prolonged diagnostic odyssey before receiving a diagnosis of Tay-Sachs disease. His legacy is helping ensure future families receive answers sooner.
At GeneDx, we believe genomic newborn screening represents one of the greatest opportunities in healthcare today: moving from a system that reacts to disease to one that identifies it earlier, intervenes sooner, and gives every child the best possible start in life.
Thank you to State Representative Adam Anderson, Dr. Patricia Emmanuel of USF Health-University of South Florida, Tampa General Hospital, and the many advocates, clinicians, researchers, and families making this vision a reality.
Watch the full news coverage ➡️ https://genedx.co/4xv427F
06/04/2026
We're encouraged to see three leading genetics organizations—the National Society of Genetic Counselors, the American Society of Human Genetics (ASHG), and the American College of Medical Genetics and Genomics (ACMG)—come together to issue a joint statement on autism and genetics.
For some individuals with autism, genetic testing can help identify an underlying genetic condition. In many cases, that information can do more than provide answers—it can help uncover associated medical conditions, guide care decisions, and connect families with important resources and support.
At GeneDx, we're committed to advancing the understanding of autism through genomic research and helping families and healthcare providers access information that can support personalized care.
Learn more about why this joint statement matters and GeneDx's perspective on the role of genetics in autism care: https://genedx.co/4fTpb4P
💙
“Mom” goes beyond a title. 💙
It’s the late nights, the advocacy, the questions that don’t go unasked.
It’s the strength to keep searching for answers, and the care given every step of the way.
This Mother’s Day, we honor the moms, the caregivers, the superheroes, and all those supporting individuals impacted by genetic conditions.
However you show up, your role matters.
Rare disease is stepping into primetime.
The upcoming CNBC Cures documentary, hosted by CNBC anchor and rare disease mom Becky Quick, is bringing long-overdue visibility to the families, patients, and science moving this space forward.
It will also feature CEO Katherine Stueland on the diagnostic journey, and why getting answers sooner can change everything.
The more we talk about rare disease, the faster we move toward clarity, care, and new possibilities.
Tune in Thursday, March 19 at 7PM ET. More information: https://genedx.co/4bn7Tco
03/09/2026
This International Women’s Day, we’re celebrating the incredible women helping move genetics and healthcare forward every day.
At GeneDx, women make up:
🟣 70% of our workforce
🟣 75% of our executive team
🟣 55% of our senior management
Together, they’re helping advance our mission of empowering everyone to live their healthiest life through genomics.
To the scientists, leaders, advocates, and teammates driving meaningful change in healthcare: thank you.
Want to learn more about the leaders helping guide our work? Learn more here → https://genedx.co/4rWMEFG
03/02/2026
What if answers came sooner, not just for some patients, but as a standard of care?
What if care felt truly connected across specialties, systems, and settings?
What if progress didn’t stall in silos, but moved at the speed of science?
On March 3, leaders across healthcare, research, policy, and innovation will gather at the CNBC Cures Summit to explore what’s next for precision medicine and patient care.
We’re proud that our GeneDx leaders will be part of that conversation bringing perspective from the front lines of genomic medicine and the families we serve.
Join the FREE livestream on March 3 and be part of the conversation shaping the future of care → https://www.cnbcevents.com/cures/
02/28/2026
How many appointments does it take to get an answer?
For many rare disease families:
16+ tests
4+ specialists
Countless unknowns
1 in 10 Americans lives with a rare disease, and most are genetic in origin.
The journey to diagnosis can take years, creating emotional strain and up to $516,000 per person in avoidable costs.
It doesn’t have to be like this. We’re working toward a future where genetic care is connected, actionable, and built around the people it’s meant to serve.
Early answers change everything.
Today is Rare Disease Day. But for millions of families, rare isn’t just one rare day of the year.
Rare is in the endless late nights searching symptoms.
Rare is in the appointments that lead to more appointments.
Rare is in the questions that echo louder each time: “Why can't anyone connect the dots?”
This , we’re going Beyond Aware for Rare.
Because awareness is our kickoff and our starting point to earlier answers.
Our purpose as a genetic testing company is to transform the often overwhelming path of genetic health into one that’s guided, connected, and actionable. No more fragmentation, guessing, or ambiguity.
Going beyond aware means:
• Connecting data to real-life care
• Turning answers into next steps
• Replacing isolation with belonging
We stand with patients, caregivers, clinicians, and advocates in both recognition and action.
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