Happy holidays! Please be advised that in-transit patient samples will be held by the carrier on Dec. 25 and received by our lab the next day. Kit orders placed on Dec. 25 will be sent on Dec. 26. Our genetic counseling services, client services, and billing services will be unavailable Dec. 24-25; please leave us a message at 888-729-1206 or [email protected] and we will respond when we return.

GenomeXpress® - Proband - 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 must be submitted along with clinical information to begin testing.

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

Test Code

TH78b

CPT Codes*

81425x1

ABN Required

No

Turnaround Time**

Results within 5 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.

***Final or preliminary results will be delivered within five days. Final confirmed report can take up to 14 days.

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