Our Science & Research

At GeneDx, our goal is to provide clear, accurate, and meaningful answers that healthcare providers, patients, families, and partners can trust. We accomplish this through extensive expertise, cutting-edge research and technology, sound science, and a deep database.  

Leverage Our Scientific Expertise

Over 20 years of experience

Detection. Discovery. Diagnosis. We are the industry’s genetic testing experts, focused on enhancing patient care through genomic insights.

High-quality testing and thorough analysis

Using the latest technology, proprietary informatics software, rich internal database, and extensive clinical expertise, we identify difficult-to-detect genetic variation and more accurately assess its contribution to disease to deliver clear, actionable results.

Impactful discovery

GeneDx has identified and published more than 400 new disease-gene relationships and developed novel tools for genomic data analysis.

Gain Insights from Our Unmatched Database

GeneDx leverages our curated dataset of:

1 Million+

Patient Samples Sequenced


Clinical Exomes & Genomes Sequenced


Mitochondrial Genomes Sequenced

The GeneDx Research Group

Transparent, responsible research drives our understanding of genetic disorders, and collaborations enable the development of novel treatments. If you are a researcher or clinician looking to identify a clinical cohort, the GeneDx research group can facilitate connections.

Potential external collaborators can email genematcher@genedx.com to learn more.

Current Collaborations & Research Studies


We are collaborating on a landmark genomic newborn screening study focused on screening 100,000 newborns for 250 genetic conditions with known interventions that can prevent or lessen the symptoms of the condition. Early diagnosis of a genetic condition can guide treatment options, medications, or interventions to prevent or reduce symptoms.

SeqFirst Study

We are collaborating to demonstrate the broad utility of rapid whole genome sequencing for critically ill babies. Results are expected to provide guidance about the best ways to help find a precise genetic diagnosis, better anticipate patient needs, and take advantage of new treatments.

Explore Our Publications & Research

GeneDx has been involved in nearly 1,000 publications to date and is dedicated to continually spearheading and contributing to work that will advance the field of genomics.