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Two Known Familial Variants in a Nuclear Gene


Conditions

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

Clinical Utility

  • Carrier testing for a specific variants previously identified in a family
  • Clinical laboratory confirmation of two or more variants identified in a research laboratory
  • If you would like to order a targeted testing of single variant in the same gene please use test code 9011
  • 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 support@genedx.com

Test Code

9012

CPT Codes*

Varies by Gene

ABN Required

No

Turnaround Time**

2-3 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.

**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.