XomeDx® - Proband

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

XomeDx, or exome sequencing (ES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual and is best suited for patients who have a genetic condition that routine genetic testing has not been able to identify. The XomeDx test targets exons, which are the protein-coding regions of the human genome. Exons are captured and sequenced using massively parallel sequencing.


XomeDx and XomeDxPlus test reports will include analysis of ACMG secondary findings in the proband unless the proband is opted-out. The presence of any secondary finding(s) reported for the proband will be provided for all relatives tested by XomeDx or XomeDxPlus. GeneDx does not conduct an independent evaluation of secondary findings in relatives as part of the proband’s XomeDx test.

Test Code

561b

CPT Codes*

81415

ABN Required

No

Turnaround Time**

6 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Dried Blood Spots | 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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