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.

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Why Year-End Is the Right Time to Order Genetic Testing

Financial

Why Year-End Is the Right Time to Order Genetic Testing

Three Hospitals. Two Surgeries. One Rare Disease Diagnosis: Layla’s Story

Genome

Three Hospitals. Two Surgeries. One Rare Disease Diagnosis: Layla’s Story

Rare Disease Data for Patient Advocacy Organizations: Introducing GeneDx Discover Snapshot

Rare Disease Diagnostics

Rare Disease Data for Patient Advocacy Organizations: Introducing GeneDx Discover Snapshot

Genetic Testing for Unexplained Epilepsy in Adults

Epilepsy

Genetic Testing for Unexplained Epilepsy in Adults

AAP Recommends Exome and Genome Sequencing for Developmental Delay and Intellectual Disability

Genomics

AAP Recommends Exome and Genome Sequencing for Developmental Delay and Intellectual Disability

What Is the Diagnostic Odyssey — And How Can We End It?

Genomics

What Is the Diagnostic Odyssey — And How Can We End It?

Genomic Testing Reduces Healthcare Costs and Improves Outcomes

Genomics

Genomic Testing Reduces Healthcare Costs and Improves Outcomes

Autism Research Breakthrough: 230 New Genes Linked to Autism

Autism

Autism Research Breakthrough: 230 New Genes Linked to Autism

Rare Disease Day: Moving Beyond Awareness to Action

Education

Rare Disease Day: Moving Beyond Awareness to Action