GeneDx ultraRapid Genome Sequencing - Proband
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:
- 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
The GeneDx ultraRapid Genome Sequencing test is nuclear genome sequencing with our fastest available turnaround time (TAT). When variants selected for reporting require additional time for confirmation, a written preliminary report will be issued within the expedited TAT. Preliminary reports will contain pathogenic/likely pathogenic variants and variants of uncertain significance identified by next generation sequencing that may be associated with the patient’s reported phenotype. In rare circumstances, when there is uncertainty whether a potentially relevant variant will confirm and a preliminary report is not able to be issued, GeneDx clinical staff will contact the ordering provider with an update on when a final report can be expected. A final written report will include all potentially clinically relevant variants from analysis of the nuclear genome, including ACMG secondary findings (if patient opts-in). Clients will be notified of any updates regarding diagnostic variants between the preliminary and final reports. A separate report for the mitochondrial genome will be issued; mitochondrial genome results will not be included in a preliminary report.
Because of the expedited TAT, samples from the proband must be submitted along with clinical information to begin testing. Note, a specific GeneDx ultraRapid Genome Sequencing specimen return shipping bag should be used when submitting samples. Please contact your account team (regional account executive or client success manager) or email [email protected] with “ultraRapid” in the subject line if shipping bags are needed.
If all of the required information is not available at the time the proband’s specimen is submitted, please inform us by emailing [email protected].
Test Code
URGb
CPT Codes*
81425x1
ABN Required
No
Turnaround Time**
Results within 3 days***
Preferred Specimen
2-5 mL Blood - Lavender Top Tube
(minimum requirement 0.5 mL blood)
*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.
*** Written results (preliminary or final) will be delivered within three days. Final confirmed report can take up to 10 days.
Test Documents
Billing
Targeted Variant Testing