GenomeXpress® - Trio - Rapid Genome Sequencing with Provisional Results in 7 Days

New York

Clinical Utility

  • Determination of a clinical diagnosis
  • Identification of gene implicated in genetic disease
  • Recurrence risk assessment

Based on current published guidelines, exome or genome sequencing can now be considered as first-tier tests for patients with unexplained epilepsy, developmental delay, intellectual disabilities and/or congenital anomalies.


  1. Genetics in Medicine (2021) 23:2029–2037;
  2. Smith, L., Malinowski, J., Ceulemans, S., Peck, K., Walton, N., Sheidley, B. R., & Lippa, N. (2023). Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. Journal of Genetic Counseling, 32, 266– 280.

Important Information

The GenomeXpress® test is an expedited nuclear genome sequencing test with a turnaround time (TAT) of approximately 2 weeks performed concurrently with mitochondrial genome sequencing and deletion testing. A provisional result for rapid nuclear genome findings is given within 7 calendar days after the start of testing and will include pathogenic and/or likely pathogenic variants in known disease-causing genes definitively explaining the patient’s phenotype. A written report including all clinically relevant variants will be reported within approximately 2 weeks after the start of testing. Concurrent mitochondrial genome test results will be provided in a separate written report within approximately 3-4 weeks after the start of testing; mitochondrial variants are not included in the provisional result.

Because of the rapid TAT, blood on the proband and both biological parents must be submitted at the same time, along with clinical information, in order to begin testing.

To ensure that family members are linked properly and in a timely manner, be sure to provide the following information on the test order and Sample Info Card submitted with the sample:

  • Family member Name
  • Family member Date of Birth
  • Patient's Name
  • Patient's Date of Birth
  • Family member's relationship to patient

This test requires approval by GeneDx; please email [email protected] to discuss prior to sending in samples.

Insurance billing not accepted.

Test Code


CPT Codes*

81425x1, 81426x2

ABN Required


Turnaround Time**

Verbal result in 7 days and final written report ~2 weeks for nuclear genome sequencing test; 3-4 weeks for mitochondrial genome test written report

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs (for parents and relatives only)

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.