XomeDx®Plus - 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

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.

Test Code

690b

CPT Codes*

81415x1, 81460x1, 81465x1

ABN Required

No

Turnaround Time**

6 weeks

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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