To ensure that a patient’s test is billed to their 2024 health benefits, testing must be started before the end of the year. For exome, genome, or Xpanded testing, if you do not expect parental samples to be received before the end of the year, please contact us at [email protected] to determine how to proceed.

GenomeSeqDx - Trio

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

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.

Family member samples being submitted for trio testing 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 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

J774a

CPT Codes*

81425x1, 81426x2

ABN Required

No

Turnaround Time**

4 weeks

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.