XomeDx® - Proband

New York

Clinical Utility

  • Determination of a clinical diagnosis
  • Identification of a gene implicated in genetic disease
  • In patients with:
    • Clinical features suggestive of a mitochondrial disorder
    • One or more congenital anomalies1
    • Neurodevelopmental disorders including developmental delay, intellectual disability, and autism spectrum disorder1-2
    • Unexplained epilepsy3
    • A phenotype suggestive of a genetic etiology but that does not correspond to a specific condition for which genetic testing is available4
    • A suspected genetic condition that has a high degree of genetic heterogeneity4
    • A suspected genetic condition for which other available genetic testing options did not identify a diagnosis4
  • 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.


  1. Manickam K et al. (2021) Genet Med. 23 (11):2029-2037 (PMID: 34211152)
  2. Srivastava S et al. (2019) Genet Med. 21 (11):2413-2421 (PMID: 31182824)
  3. Smith L et al. (2023) J Genet Couns. 32 (2):266-280 (PMID: 36281494)
  4. ACMG Board of Directors (2012) Genet Med. 14 (8):759-61 (PMID: 22863877)

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 XomeDx® Plus 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 XomeDx® Plus. GeneDx does not conduct an independent evaluation of secondary findings in relatives as part of the proband’s XomeDx® test.

Test Code


CPT Codes*


ABN Required


Turnaround Time**

5 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.