2025 CPT code 81291

Analysis of common variants in the MTHFR gene.

Adhere to CPT guidelines for molecular pathology procedures, including the handling of common versus uncommon variants and the separate reporting of interpretation services using modifier 26.

Modifier 26 may be appended to report physician interpretation and reporting separately. Other modifiers may apply depending on the specific circumstances. Consult CPT guidelines and local payer policies for applicable modifiers.

Medical necessity for this test would typically be established based on clinical indications such as elevated homocysteine levels, family history of MTHFR-related conditions, or risk assessment for cardiovascular disease or pregnancy complications.Payers may have specific criteria for medical necessity, so it is crucial to consult with their policies.

The clinical responsibility lies primarily with the laboratory personnel who perform the technical aspects of the MTHFR gene analysis. A physician may be responsible for ordering the test and interpreting the results; separate coding with modifier 26 is required for interpretation.

IMPORTANT No alternate codes explicitly listed.If testing for additional rare variants is performed beyond the common variants included in 81291, separate coding may be necessary based on the specific additional tests performed.Consult CPT guidelines and professional coding resources for guidance.

In simple words: This lab test checks for common changes in a gene called MTHFR that affects how the body uses folate. The test looks for specific changes that might increase the risk of certain health problems.A doctor may order this test if someone has high levels of homocysteine in their blood or a family history of related health issues.

This CPT code, 81291, encompasses the technical component of analyzing common variants (e.g., 677T, 1298C) within the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene.The procedure includes all analytical steps, from nucleic acid extraction (e.g., cell lysis, digestion) and amplification to variant detection using methods such as nucleic acid probes. While the code typically includes the listed variants, it may also encompass other, unlisted variants detected during the analysis.Physician interpretation and reporting are not included and should be reported separately using modifier 26 if performed.

Example 1: A patient presents with elevated homocysteine levels. The physician orders this test to assess for common MTHFR gene variants that could be contributing to the elevated levels., A patient with a family history of cardiovascular disease and early onset undergoes genetic testing, including this MTHFR gene analysis, to identify potential risk factors., A pregnant woman undergoes genetic screening which includes this test as part of the panel to assess potential risks associated with MTHFR mutations during pregnancy.

Physician order specifying the test (81291).Patient demographics and relevant clinical information (e.g., family history, symptoms). Lab report including the results of the MTHFR gene analysis and any identified variants.

** Always refer to the latest CPT codebook and payer-specific guidelines for the most up-to-date information on coding, reimbursement, and medical necessity.This information is for guidance only and should not be considered medical advice.

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