- 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
- 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.
- Manickam K et al. (2021) Genet Med. 23 (11):2029-2037 (PMID: 34211152)
- Srivastava S et al. (2019) Genet Med. 21 (11):2413-2421 (PMID: 31182824)
- Smith L et al. (2023) J Genet Couns. 32 (2):266-280 (PMID: 36281494)
- ACMG Board of Directors (2012) Genet Med. 14 (8):759-61 (PMID: 22863877)
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, unless the relative opts out of secondary findings. GeneDx does not conduct an independent evaluation of secondary findings in relatives as part of the proband’s XomeDx® test.
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. 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.
*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.
Targeted Variant Testing