Confirmation of Variant Identified in Research/Outside Laboratory

Test Overview

Clinical Utility

  • If a patient was originally tested at a research laboratory, we can analyze a new sample to confirm observation of the variant and provide a classification/interpretation to allow the patient to have a report from a CLIA-certified laboratory.
  • If a patient was originally tested at an outside clinical laboratory but wishes to have a second opinion, we can analyze a new sample to confirm observation of the variant and provide a classification/interpretation.
  • Please enclose a copy of the patient’s previous test report, including the name of the gene and appropriate variant notation.
  • 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.

Test Details

Conditions

  • Variant-Specific Testing to confirm a variant identified in a research/outside laboratory

Lab Method

  • Capillary Sequencing

Ordering Information

Test Code: 9001
CPT Codes*: Varies by Gene
ABN Required: No
Turnaround Time**: 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.

**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.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs