Featured GeneDx blog posts

Everly's Story GeneDx Patient Story

Genome

Everly’s story: How genome sequencing led to an FRRS1L diagnosis

Genome sequencing gave Everly’s family an answer after earlier testing did not. Her FRRS1L disease diagnosis brought clarity—and sparked a mission to help future children receive answers earlier and advance a potential treatment for this ultra-rare condition.

Clinical Research

From discovery to diagnosis: Canadian collaborations deliver new answers for rare disease patients

Research collaborations involving GeneDx and Canadian partners are unlocking new diagnostic answers for patients around the world.

Developmental

Mora’s story: How an early SYNGAP1 diagnosis changed her care

When Mora began missing developmental milestones, her parents trusted their instincts and continued searching for answers. Exome sequencing identified SYNGAP1-related disorder, helping her family and care team proactively monitor for seizures and access earlier interventions and specialized care.

Thank you! Your submission has been received!

Oops! Something went wrong while submitting the form.

New SMFM Guidance Advances the Role of Prenatal Genomic Sequencing

Payor

New SMFM Guidance Advances the Role of Prenatal Genomic Sequencing

Expanding the Availability of Exome Testing for Children with Developmental Delays and Epilepsy

Exome

Expanding the Availability of Exome Testing for Children with Developmental Delays and Epilepsy

Maxwell's Story: How Genetic Testing Turned Uncertainty Into a Roadmap for Action

Rare Disease Diagnostics

Maxwell's Story: How Genetic Testing Turned Uncertainty Into a Roadmap for Action

Abbie's Story: How Broader Genetic Testing Changed Her Cerebral Palsy Diagnosis

Cerebral Palsy

Abbie's Story: How Broader Genetic Testing Changed Her Cerebral Palsy Diagnosis

3 Things General Pediatricians Should Know About Earlier Genetic Testing

Pediatrics

3 Things General Pediatricians Should Know About Earlier Genetic Testing

GeneDx Joins Start Genetic in Support of Genetic Testing Action Day

Education

GeneDx Joins Start Genetic in Support of Genetic Testing Action Day

Earlier Genetic Answers Are Changing the NICU Journey

NICU

Earlier Genetic Answers Are Changing the NICU Journey

Stargardt Disease: Genetic Insights are Powering the Next Generation of Research

Ready for Research Series

Stargardt Disease: Genetic Insights are Powering the Next Generation of Research

A Clearer Path Forward: New Genetic Test Reports Designed with Patients and Families in Mind

Genetic Testing

A Clearer Path Forward: New Genetic Test Reports Designed with Patients and Families in Mind