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October 27, 2015 - Updated 05.17.17

ENG and ACVRL1 Gene Tests Coding and Billing Guidelines (CM00071, V2)

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder with variable clinical presentation. Most common manifestations are epistaxis, recurrent gastrointestinal bleeding, iron deficiency anemia, and mucocutaneous telangectasias. Arteriovenous malformations (AVMs), of various organs (lung, liver, brain) are common.

The two most prevalent forms of HHT, Type 1 and Type 2, are caused by mutations in the endoglin (ENG) or the ACVRL1 gene respectively. Although identification of these gene mutations can confirm the diagnosis of HHT, these tests are not necessary in many cases. HHT is generally established using well vetted consensus criteria (most often the International Curaçao Criteria (ICC)). The ICC uses the clinical characteristics of epistaxis, cutaneous or mucosal telangectasias, visceral AVMs, and a first-degree relative with HHT to judge likelihood of a given patient having HHT. A 'definite' diagnosis is established when a patient has 3 or 4 of these criteria. Genetic testing for ENG/ACVRL1 is not warranted. A patient with 0 to 1 criteria is 'unlikely' to have HHT, and similarly would not be a candidate for genetic testing. Patients with 2 or 3 Curaçao criteria are defined as "suspected" of HHT and are candidates for ENG/ACVRL1 testing.

Since screening of patients without signs or symptoms of HHT, who have a first-degree relative with HHT, is not a Medicare benefit, Palmetto GBA has determined ENG and/or ACVRL1 genetic testing and panels of tests that include ENG/ACVRL1 are statutorily excluded services.

EXCEPTIONS: For patients with 'suspected' HHT in which diagnosis confirmation would demonstrate an improved outcome, approval will be made on a case-by-case basis through the appeal process.

For tests that include ENG and ACVRL1 registered and assigned a single Z-Code™ Identifier, submit CPT code 81479.

To receive an ENG and/or ACVRL1 gene test denial, please submit the following claim information:

  • Select appropriate CPT code for test
    • CPT code 81403-ENG, known familial variant
    • CPT code 81405-ENG, Duplication/deletion
    • CPT code 81406-ENG, full gene sequence
    • CPT code 81479-ACVRL1
    • CPT code 81479-ACVRL1 and ENG
  • 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
  • For CPT non-NOC codes, Labs may either use the SV101-7 or SV202-7 (preferred) or the NTE field to submit this required information.
    • Enter the appropriate DEX Z-Code™ identifier adjacent to the CPT code in the comment/narrative field for the following Part B claim field/types:
      • Loop 2400 or SV101-7 for the 5010A1 837P
      • Box 19 for paper claim
    • Enter the appropriate DEX Z-Code™ identifier adjacent to the CPT code in the comment/narrative field for the following Part A claim field/types:
      • Line SV202-7 for 837I electronic claim
      • Block 80 for the UB04 claim form

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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