GenomeSeqDx - Proband
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:
- 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
Important Information
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.
Insurance billing is accepted for select insurance providers and for patients meeting their insurance plan’s medical policy coverage criteria.
Prior authorization is required with this selection. If not provided with the order, GeneDx will work to obtain the prior authorization on your behalf. The order will be held until a determination is made.
Test Code
J774b
CPT Codes*
81425x1
ABN Required
No
Turnaround Time**
4 weeks
Preferred Specimen
*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.
Test Documents
Billing
Targeted Variant Testing