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CFTR Sequencing and Deletion/Duplication Analysis

New York




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

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.

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code


CPT Codes*

81222x1, 81223x1

ABN Required


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.

**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.