For the most complex cases
Genome sequencing provides the most complete picture of an individual’s DNA, detecting variants across coding and non-coding regions as well as structural changes missed by other methods. This comprehensive view increases the chance of finding meaningful answers in complex, atypical, or undiagnosed cases.
- Captures variants across coding, non-coding, intronic, and regulatory regions that other tests can miss.
- Detects structural changes such as CNVs, repeat expansions, UPD, aneuploidy, and mitochondrial variants.
- Delivers higher diagnostic potential for atypical, multisystem, or previously nondiagnostic cases.
Genome is recommended as a first-line test
- The National Society of Genetic Counselors (NSGC) recommends genome or exome as a first-line test for all individuals with unexplained epilepsy and this guideline is endorsed by the American Epilepsy Society (AES).1
- The American College of Medical Genetics and Genomics (ACMG) recommends genome or exome as a first-line test for developmental delay, intellectual disability, and congenital anomalies.2
- The International Precision Child Health Partnership (IPCHiP) recommends genome or exome as a first-line test for NICU patients with unexplained hypotonia.3
- The American Academy of Pediatrics (AAP) recommends ordering exome and genome as first-line tests for children with global developmental delays and intellectual disabilities.4
Comprehensive clarity. One test.
By evaluating all regions of the genome and capturing multiple variant types at once, GenomeDx increases the likelihood of identifying the underlying cause of a patient’s symptoms. Its broad detection makes it an ideal first choice for complex or atypical presentations.
Sequence Variants
SNVs, indels, intronic variants, regulatory variants
Repeat Expansions
Short tandem repeat expansions in select genes
Structural Variants
CNVs, large deletions/duplications, other complex rearrangements
Mitochondrial Variants
mtDNA SNVs, mtDNA indels, mtDNA deletions
The full genome suite
Our genome sequencing suite offers multiple turnaround times so you can choose the right test for the urgency of each case.
GenomeDx™ ultraRapid
Our fastest genome test, designed for critically ill patients who need clear answers as quickly as possible.
Turnaround time: results within 3 daysâ€
Available for proband
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Choose a test
Use the test catalog to search by condition, gene, or indication. Each listing includes recommended use cases, methodology, and sample requirements—helping you select the right test for each patient.
Submit a sample
Request a sample collection kit, collect the sample, and ship it to our lab using the provided materials. Detailed instructions are included with every kit.
Receive results
Results are delivered securely through our online ordering portal, typically within 2–4 weeks. Each report includes clear findings, interpretation, and clinical guidance to support next steps in care.
Helpful resources
Billing and coverage plans
More insurance companies now cover genome sequencing. Learn about which plans cover outpatient genome testing.
Support
Our team of clinical and genetic experts are here throughout the process—from education and guidance to results interpretation and next steps.