CFTR Sequencing and Deletion/Duplication Analysis

NY Approved

Test Overview

Clinical Utility

  • Testing of individuals with symptoms and/or a clinical diagnosis of cystic fibrosis
  • Testing of individuals with symptoms and/or a clinical diagnosis of a CFTR-related disorder
  • Testing of newborns with a positive newborn screening result when mutation testing (using the standard 23-mutation panel) had a negative result.
  • Testing of individuals with a negative carrier screening result, but a family history of cystic fibrosis.
  • This test is not recommended for routine carrier screening.

Test Details

Genes

CFTR

Conditions

  • (CF) Cystic Fibrosis
  • CFTR-Related Disorders (CFTR-RD)
  • CFTR-Related Metabolic Syndrome (CRMS)
  • Chronic or recurrent acute pancreatitis
  • Congenital absence of the vas deferens (CAVD)
  • Disseminated bronchiectasis

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: T829
CPT Codes*: 81222x1, 81223x1
ABN Required: No
Turnaround Time**: 3 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs

*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