- 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
GenomeSeqDx includes concurrent evaluation of the nuclear genome and mitochondrial genome using two separate assays. Separate result reports will be issued for the nuclear genome analysis and the mitochondrial genome analysis.
If family member samples are being submitted for trio or duo testing, each sample should be labeled with the name and date of birth of the person whose sample is contained in the tube, as well as the date of collection.
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
Family member samples MUST BE RECEIVED WITHIN 3 WEEKS. Ordered test codes may require modification, if indicated family member samples are not received. A change in the ordered test will impact billing, including prior benefits investigations.
Insurance bill for this test is available for patients meeting United Healthcare’s, Cigna’s, Harvard Pilgrim or Tufts’ medical policy coverage criteria.
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.