BCKDHB Gene Test Coding and Billing Guidelines (CM00049)
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October 20, 2015

BCKDHB Gene Test Coding and Billing Guidelines (CM00049)

Effective for dates of service on and after February 7, 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. Therefore, MolDX 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, MolDX will also deny panels of tests that include the BCKDHB gene as a statutorily excluded test

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

Select the appropriate code based on type of testing

CPT code 81205- BCKDHB, common variants

CPT Code 81406- BCKDHB, full gene sequence

An Advance Beneficiary Notice (ABN) is not required for statutorily excluded services

For a voluntary issued ABN, append with GX HCPCS modifier

To indicate a statutorily excluded service, append with a GY HCPCS modifier

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 2300 NTE01 for Part A or Loop 2400 or SV101-7 for the 5010A1 837P for Part B

Form locator 80 for Part A or Box 19 for Part B 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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