To ensure that a patient’s test is billed to their 2024 health benefits, testing must be started before the end of the year. For exome, genome, or Xpanded testing, if you do not expect parental samples to be received before the end of the year, please contact us at [email protected] to determine how to proceed.

GenomeXpress® - Trio - Rapid Genome Sequencing

New York
Approved

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.

References:

  1. Genetics in Medicine (2021) 23:2029–2037; https://doi.org/10.1038/s41436-021-01242-6
  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. https://doi.org/10.1002/jgc4.1646

Important Information

The GenomeXpress® test is nuclear genome sequencing with an expedited turnaround time (TAT). A provisional result available before the final report will include pathogenic and/or likely pathogenic variants in known disease-causing genes definitively explaining the patient’s phenotype. A final written report will include all potentially clinically relevant variants from analysis of the nuclear genome. Clients will be notified of any updates regarding diagnostic variants between the provisional result and written report. A separate report for the mitochondrial genome will be issued around the same time as the nuclear genome result.

Because of the rapid TAT, samples on the proband and 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

If all of the required information and/or samples are not available at the time the proband’s specimen is submitted, please inform us by emailing [email protected].

Test Code

TH78a

CPT Codes*

81425x1, 81426x2

ABN Required

No

Turnaround Time**

Final results available as early as 4 days; expected within 14 days

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.

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