- Determination of a clinical diagnosis
- Identification of gene implicated in genetic disease
- Recurrence risk assessment
- 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.
- 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
XomeDxPlus includes whole exome sequencing as well as mitochondrial genome sequencing and deletion testing. For more information on the mitochondrial genome sequencing and deletion component of the XomeDxPlus testing, please visit our neurology/mitochondrial genetics page on our website. XomeDxPlus is best suited for individuals with clinical features suggesting a mitochondrial disorder.
If family member samples are being submitted for trio or duo testing, each sample 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.
81415x1, 81416x2, 81460x1, 81465x1
*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.
Targeted Variant Testing