One Known Familial Variant in a Nuclear Gene


  • Carrier/Variant-Specific Testing
  • Carrier/Variant-Specific Testing - Nuclear Variants

Clinical Utility

  • Carrier testing for a specific variant previously identified in a family
  • To order clinical laboratory confirmation of a variant identified at an outside clinical or research laboratory, please use test code 9001
  • 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


CPT Codes*

Varies by Gene

ABN Required


Turnaround Time**

2-3 weeks, except for Cardiology/Neurology tests where TAT is 4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Dried Blood Spots

*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.