NSD1 Gene Tests Coding and Billing Guidelines (CM00054)
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October 22, 2015

NSD1 Gene Tests Coding and Billing Guidelines (CM00054)

Effective for dates of service on and after June 26, 2013.

NSD1 gene testing may be performed during the diagnosis of Sotos Syndrome. Since testing is limited to reproductive risk assessment, MolDX has determined NSD1 gene testing is a statutorily excluded service. Palmetto will also deny tests that include one or more of NSD1 analysis reported with CPT code 81479 as statutorily excluded tests.

To receive a NSD1 analysis service denial, please submit the following claim information:

  • Select appropriate CPT code according to genetic material tests
    • CPT code 81403 for NSD1, known familial variant
    • CPT code 81405 for NSD1 duplication/deletion
    • CPT code 81406 for NSD1 gene sequencing
    • CPT code 81479 for combinations of NSD1 analysis
  • 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 SV101-7 (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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