CFTR Gene Analysis Coding and Billing Guidelines (CM00061, V2)
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October 27, 2015
Updated: November 11, 2015

CFTR Gene Analysis Coding and Billing Guidelines (CM00061, V2)

Effective for dates of service on and after 01/01/2013.

Genetic testing for cystic fibrosis (CF) transmembrane conductance regulator (CFTR) is typically performed to screen adults with a positive family history of CF. Therefore, the MolDX team has determined that CFTR gene testing to identify parents at risk is not a Medicare benefit and is a statutorily excluded test. In addition to single disease testing, MolDX will also deny panels of tests that include the CFTR gene test for CF as statutorily excluded tests.

To receive a CFTR test service denial, please submit the following claim information:

  • Select the appropriate CPT code for the CFTR test performed:
    • CPT code 81220 - common variant
    • CPT code 81221- known familial variant
    • CPT code 81222- duplication/deletion variants
    • CPT code 81223- full gene sequence
    • CPT code 81224- intron 8 poly-T
    • CPT code 81412- Ashkenazi Jewish associated disorders, at least 9 gene panel
    • CPT code 81479- panel
  • An Advance Beneficiary Notice of Non-Coverage (ABN)External Website is not required for statutorily excluded services.
    • For a voluntary issued ABN, append with HCPCS modifier GX
    • To indicate a valid ABN is on file for a known statutorily excluded service, append with HCPCS modifier GY
  • Select the appropriate diagnosis for the patient
  • Enter the appropriate identifier adjacent to the CPT code in the comment/narrative field for the following claim field/types:
    • Part A: Loop 2300 NTE 01 (electronic claim); Form Locator 80 (paper claim)
    • Part B: Loop 2400 or MolDX Identifier (MID) field (electronic claim); Item 19 (paper claim)

Reference: Sec. 1862 (1)(A) Statutory Exclusion covers diagnostic testing “except for items and services that are not reasonable and necessary for the diagnosis or treatment of illness or injury or to improve the functioning of a malformed body member,…”

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