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.

GenomeXpress® - Proband - Rapid Genome Sequencing

New York
Approved

Clinical Utility

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

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 GenomeXpress® test is an expedited nuclear genome sequencing test with a turnaround time (TAT) of approximately 2 weeks performed concurrently with mitochondrial genome sequencing and deletion testing. A provisional result for rapid nuclear genome findings is given within 7 calendar days after the start of testing and will include pathogenic and/or likely 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. Concurrent mitochondrial genome test results will be provided in a separate written report within approximately 3-4 weeks after the start of testing; mitochondrial variants are not included in the provisional result.

Because of the rapid TAT, samples on the proband must be submitted along with clinical information to begin testing.

This test requires approval by GeneDx; please email [email protected] to discuss prior to sending in samples.

Insurance billing not accepted.

Test Code

TH78b

CPT Codes*

81425x1

ABN Required

No

Turnaround Time**

Verbal result in 7 days and final written report ~2 weeks for nuclear genome sequencing test; 3-4 weeks for mitochondrial genome test written report

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.

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