PAX6 Gene Sequencing Coding and Billing Guidelines (CM00081, V2)
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October 30, 2015 - Updated 10.13.17

PAX6 Gene Sequencing Coding and Billing Guidelines (CM00081, V2)

Effective for dates of service on and after January 29, 2013.

PAX6 is most frequently associated with PAX6-associated aniridia and WAGR syndrome (predisposition to Wilms tumor, Aniridia, Genitourinary anomalies and mental Retardation). Because FISH probes are reported to detect 100 percent of the WAGR syndrome cases, FISH probes represent the gold standard for patient diagnosis. Although PAX6 sequencing will identify the underlying genetic mutation leading to the development of aniridia in approximately 50 percent of individuals with sporadic disease, the remaining 50 percent will have negative test results. Therefore, MolDX has determined PAX6 gene sequencing does not support the required clinical utility for the established Medicare benefit category and is a statutorily excluded test.

To receive a PAX6 gene sequencing service denial, please submit the following claim information:

  • CPT code 81479
  • 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 DEX Z-code™ identifier adjacent to the CPT code in the comment/narrative field for the following claim field/types:
    • Part A: Line SV202-7 (electronic claim); Block 80 (paper claim)
    • Part B: Loop 2400 or SV101-7 (electronic claim); Box 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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