April 5, 2013
BCKDHB Gene Test Coding and Billing Guidelines
Effective for dates of service on and after January 1, 2013.
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 a statutorily excluded test.
The following tests have been identified as non-covered:
| Test |
|---|
Maple Syrup Disease |
Ashkenazi Jewish FlexPanel |
Ashkenazi Jewish FlexPanel |
To receive a BCKDHB test service denial, please submit the following claim information:
- CPT code 81205 (effective 01/01/2013)
- Append with GA HCPCS modifier to indicate a valid Advance Beneficiary Notice (ABN) is on file for the service
- Select the appropriate diagnosis for the patient
- Enter the appropriate identifier adjacent to each code in the stack in the comment/narrative field for the following claim field/types:
- Loop 2400, NTE02, or SV101-7 for the 5010A1 837P
- Box 19 for 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,…"

