XomeDx® Plus - Proband

New York
Approved


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.

References:

  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 is best suited for individuals with clinical features suggesting a mitochondrial disorder.

Test Code

_561b_561m

CPT Codes*

561b (exome sequencing): 81415x1 / 561m (mtDNA): 81460x1, 81465x1

ABN Required

No

Turnaround Time**

6 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs