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

Genome

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

When every moment matters: The role of rapid genomic sequencing in the NICU

NICU

When every moment matters: The role of rapid genomic sequencing in the NICU

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

Clinical Research

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

Expanding rapid genome sequencing beyond the ICU: What a new Seattle Children’s Study means for pediatric care

Rapid Genome Sequencing

Expanding rapid genome sequencing beyond the ICU: What a new Seattle Children’s Study means for pediatric care

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

Developmental

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

Exome-to-Genome Reflex Ordering Is Now Available in Epic Aura

Exome

Exome-to-Genome Reflex Ordering Is Now Available in Epic Aura

GeneDx Launches Easy Order for ExomeDx™ with CMA in the Provider Portal

Exome

GeneDx Launches Easy Order for ExomeDx™ with CMA in the Provider Portal

Strengthening Health Plan Collaboration to Improve Claims Accuracy and Patient Access

Payor

Strengthening Health Plan Collaboration to Improve Claims Accuracy and Patient Access

Translating Clinical Guidance Into Coverage Policy

Exome

Translating Clinical Guidance Into Coverage Policy