- Determination of a clinical diagnosis
- Identification of gene implicated in genetic disease
- Recurrence risk assessment
- Next-Gen Sequencing
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 XomeDxPlus 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 XomeDxPlus. GeneDx does not conduct an independent evaluation of secondary findings in relatives as part of the proband’s XomeDx test. Family member samples MUST BE RECEIVED WITHIN 3 WEEKS. Ordered test codes may require adjusting to appropriately correspond with relative samples received. A change in the ordered test will impact billing, including prior benefits investigations. To ensure that family members are linked properly and in a timely manner, be sure to include the following information for each relative sample:
- Relative name
- Relative DOB
- Proband's name
- Proband's DOB
- Relative's relationship to proband
*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.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.
Targeted Variant Testing