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April 11, 2013

BCKDHB Gene Test: Coding and Claim Submission Guidelines

BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) gene testing identifies mutations in the BCKDHA, BCKDHB, DBT, and DLD genes causing maple syrup urine disease (MSUD). Genetic testing identifies parents at risk for conceiving a child with MSUD. CGS Administrators has determined that BCKDHB gene testing to identify parents at risk is not a Medicare benefit and a statutorily excluded test. In addition to single disease testing, CGS will also deny panels of tests that include the BCKDHB gene as statutorily excluded tests.

The following tests have been identified as non-covered:

Test

Maple Syrup Disease

Ashkenazi Jewish FlexPanel

Ashkenazi Jewish FlexPanel

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 BCKDHB gene testing must include:

  • For dates of service prior to January 1, 2013: use the appropriate CPT code stack for the test
  • For dates of service on or after January 1, 2013: CPT code 81205
  • HCPCS modifier GY (statutorily non-covered service)
  • The appropriate ICD-9-CM code(s)
  • The name of the test:
    • Electronic claims: Loop 2400, NTE02, or SV101-7 field
    • Paper claims: Box 19

Reference:

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