- Determination of a clinical diagnosis
- Identification of gene implicated in genetic disease
- Recurrence risk assessment
- 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.
- Genetics in Medicine (2021) 23:2029–2037; https://doi.org/10.1038/s41436-021-01242-6
- 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
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 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
Please email [email protected] to discuss prior to sending in samples
Insurance billing not accepted
Provisional result in 7 days; final report ~2 weeks
*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.