XomeDx® Plus - Trio

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® Plus consists of concurrent evaluation of the exome and mitochondrial genome using two separate assays. Separate result reports will be issued for the exome analysis and the mitochondrial genome analysis. XomeDx® Plus 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 for inclusion in the exome analysis. 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.

Test Code


CPT Codes*

561a (exome sequencing): 81415x1, 81416x2 / 561m (mtDNA): 81460x1, 81465x1

ABN Required


Turnaround Time**

5 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs