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April 9, 2014

ENG and ACVRL1 Gene Tests: Coding and Claims Submission Guidelines

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder with variable clinical presentation. The 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 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 that meets 0 criteria to 1 criterion is 'unlikely' to have HHT, and similarly would not be a candidate for genetic testing. Patients that meet 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 and who have a first-degree relative with HHT is not a Medicare benefit, CGS 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 result in an improved outcome, approval will be made on a case-by-case basis through the appeal process.

The following CPT codes are appropriate for gene or gene component testing:

Gene/Gene Component CPT Code
ENG, Duplication/Deletion 81405
ENG, Full Gene Sequence 81406
ENG, Known Familial Variants (NOC) 81403
ACVRL1 81479

Health care providers are not required to submit claims to Medicare for statutorily non-covered services; however, you may choose to submit claims (e.g., at the patient's request). Claims for ARVC sequencing panels must include:

  • The appropriate CPT code for gene or gene component tested
  • The name of the test (i.e. ENG, full gene seq):
    • Electronic claims: Loop 2400, NTE02, or SV101-7 field
    • Paper claims: Box 19
  • HCPCS modifier GY (statutorily non-covered service)
  • The appropriate ICD-9-CM code(s)

Reference:

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