One Known Familial Variant in a Nuclear Gene
Conditions
- Carrier/Variant-Specific Testing
- Carrier/Variant-Specific Testing - Nuclear Variants
Clinical Utility
- Carrier testing for a specific variant previously identified in a family
- Clinical laboratory confirmation of one variant identified in a research laboratory
- If you would like to order a targeted testing of two variants in the same gene please use test code 9012
- For specimens drawn in New York, carrier or targeted variant testing is an approved test if the family had previous testing at GeneDx or if the gene itself is in an approved single-gene test or multi-gene panel. In these situations it is not necessary to obtain individual NYSDOH permission.
Lab Method
- Capillary Sequencing
Important Information
GeneDx does not currently offer targeted prenatal testing for variants found in Mitochondrial (mtDNA) genes. To learn more about potential options, or for any questions, please email to [email protected]
Test Code
9011
CPT Codes*
Varies by Gene
ABN Required
No
Turnaround Time**
2-3 weeks, except for Cardiology/Neurology tests where TAT is 4 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.
**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.
Test Documents
Billing
Targeted Variant Testing