SMPD1 Genetic Testing Coding and Billing Guidelines (CM00065)
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October 27, 2015

SMPD1 Genetic Testing Coding and Billing Guidelines (CM00065)

Effective for dates of service on and after February 7, 2013.

Mutations found in sphingomyelin phosphodiesterase 1, (SMPD1) acid lysomal, are associated with Niemann-Pick Disease, characterized by acid sphingomyelinase (ASM) deficiency. For infants and children, SMPD1 genetic testing is used to confirm the clinical findings from blood tests to diagnose ASM. Genetic testing for adults is used to screen the population for potential carriers of the mutation. Therefore, the MolDX team has determined that SMPD1 genetic testing is not a Medicare benefit and is a statutorily excluded service. In addition to single disease testing, MolDX will also deny panels of tests that include a SMPD1 gene test as a statutorily excluded service.

To receive a SMPD1 test denial, please submit the following claim information:

  • CPT code 81330- SMPD1, common variants
  • CPT code 81403- SMPD1, known familial variant
  • 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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