GenomeXpress® - Trio - 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:
- 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 GenomeXpress® test is nuclear genome sequencing with an expedited turnaround time (TAT). When variants selected for reporting require additional time for confirmation, a 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 around the same time as the nuclear genome result.
Because of the rapid TAT, samples from the proband and biological parents must be submitted at the same time, along with clinical information, in order to begin testing.
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
If all of the required information and/or samples are not available at the time the proband’s specimen is submitted, please inform us by emailing [email protected].
Test Code
TH78a
CPT Codes*
81425x1, 81426x2
ABN Required
No
Turnaround Time**
Results within 5 days***
Preferred Specimen
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.
***Final or preliminary results will be delivered within five days. Final confirmed report can take up to 14 days.
Test Documents
Billing
Targeted Variant Testing