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.

XomeDxXpress® - Proband - Rapid Exome Sequencing

New York
Approved

Clinical Utility

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

Lab Method

  • Next-Gen Sequencing

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 XomeDxXpress® test is whole exome sequencing with an expedited turnaround time (TAT) of approximately 2 weeks. A provisional result is given within 7 calendar days after the start of testing and will include pathogenic and/or expected 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. Because of the rapid TAT, samples on the proband must be submitted along with clinical information to begin testing.

Please email [email protected] to discuss prior to sending in samples.

Insurance billing not accepted.

Test Code

896b

CPT Codes*

81415x1

ABN Required

No

Turnaround Time**

Provisional result in 7 days; final report ~2 weeks

Preferred Specimen

3-6 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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