Genomic sequencing: exome and genome testing
Genomic sequencing for rare and complex disease diagnosis
GeneDx offers clinical whole exome sequencing (WES) and whole genome sequencing (WGS) to help healthcare providers and genetics professionals uncover genetic causes of rare and complex conditions when other tests fall short.
What is genomic sequencing?
Genomic sequencing is a genetic testing approach that analyzes large portions of a patient’s DNA to identify disease-causing variants. Clinical genomic sequencing typically includes whole exome sequencing (WES) and whole genome sequencing (WGS), which examine thousands of genes simultaneously to diagnose rare and complex conditions.
GeneDx offers both whole exome and whole genome sequencing, enabling clinicians to identify variants that targeted panels or single-gene tests may miss.
Clarity starts here
From first signs to clear answers—our genomic sequencing solutions help you connect the clinical dots, faster.
GeneDx Infinity™ is the largest rare disease dataset, powered by data from more than 2.5 million tests, including more than 1 million exomes and genomes and more than 9 million phenotypic datapoints. Approximately 50% of individuals are of non-European descent. 17
Genomic testing solutions
Why trio testing matters
Trio testing includes samples from both parents, providing additional context for variant interpretation. Compared with testing that does not include samples from both parents, trio testing can increase diagnostic yield by 7–15%.¹³–¹⁶
Why early genomic sequencing matters
Early genetic testing provides critical insights for complex medical conditions. Understanding which genetic variant(s) is causing your patient's symptoms can transform patient care and treatment strategies.
Broad clinical applications
Exome and genome sequencing are supported by clinical recommendations or guidelines for certain indications and used in a wide range of patient populations, especially when standard testing has been inconclusive or the phenotype is complex. GeneDx’s comprehensive testing enables you to bring clarity and direction earlier in the diagnostic process.
Unexplained epilepsy
For patients with unexplained seizures, where a genetic etiology may inform treatment, prognosis, or follow-up.
Autism
When developmental and social communication delays are observed, genomic sequencing expands the search beyond targeted panels.
Cerebral palsy
Patients presenting with motor impairment may have underlying genetic causes that exome or genome testing can reveal.
Developmental disorders
Early identification of underlying genetic diagnoses supports timely intervention and management.
Neonatal & pediatric critical care
Critically ill infants with suspected genetic disorders benefit from rapid and comprehensive testing to guide urgent care decisions.
More coverage for patients
Genomic testing is more accessible than ever. GeneDx accepts all commercial insurance plans, including many in-network contracts with major national and regional payors, as well as Medicaid, Medicare, and Tricare.
Help your patients find answers
We’re here to support every step.
Whether you’re a healthcare provider, patient, family member, or biopharma partner, GeneDx is here to support your next step.