Targeted Mosaic Variant Testing
Conditions
- Carrier/Variant-Specific Testing
- Carrier/Variant-Specific Testing - Nuclear Variants
Clinical Utility
- Testing parent(s) to clarify future reproductive risks when a variant was identified in a child
- Testing a parent who is suspected to be mosaic due to a mild clinical presentation or the presence of only certain tissue-specific features of the disorder
- Testing additional tissue samples to evaluate for the possibility of tissue-specific mosaicism in a proband
- CLIA confirmation of suspected mosaic findings identified by a research study
Lab Method
- Next-Gen Sequencing
Important Information
Test Code
J829
CPT Codes*
81479x1
ABN Required
No
Turnaround Time**
3 weeks
Preferred Specimen
Alternative Specimen
*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.
Test Documents
Billing
Targeted Variant Testing