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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A Rare Disease Diagnosis From the Start: One Family’s Experience With Genome-Based Newborn Screening

Newborn

A Rare Disease Diagnosis From the Start: One Family’s Experience With Genome-Based Newborn Screening

Evelyn’s Story: When a Cerebral Palsy Diagnosis Wasn’t Enough

Cerebral Palsy

Evelyn’s Story: When a Cerebral Palsy Diagnosis Wasn’t Enough

From Dismissed to Diagnosed: A Family’s Journey to an HHT Genetic Diagnosis

Rare Disease Diagnostics

From Dismissed to Diagnosed: A Family’s Journey to an HHT Genetic Diagnosis

Savannah’s Story: How Exome Testing Diagnosed CTNNB1 Syndrome

Rare Disease Diagnostics

Savannah’s Story: How Exome Testing Diagnosed CTNNB1 Syndrome

Ben’s Story: How Genome Sequencing Diagnosed Labrune Syndrome

Epilepsy

Ben’s Story: How Genome Sequencing Diagnosed Labrune Syndrome

Genome Sequencing for Newborn Screening: First Results From the GUARDIAN Study

Newborn

Genome Sequencing for Newborn Screening: First Results From the GUARDIAN Study

Bodhi’s Story: How Exome Testing Diagnosed Cabezas Syndrome

Rare Disease Diagnostics

Bodhi’s Story: How Exome Testing Diagnosed Cabezas Syndrome

Simon’s Story: How Genetic Testing Diagnosed a Rare Immune Disorder

Rare Disease Diagnostics

Simon’s Story: How Genetic Testing Diagnosed a Rare Immune Disorder

How Genetic Testing Can Help Identify the Cause of Epilepsy in Children

Epilepsy

How Genetic Testing Can Help Identify the Cause of Epilepsy in Children