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The CPT® Code 81291 pertains to the molecular genetic testing of the MTHFR gene, specifically focusing on common variants such as 677T and 1298C. This testing is crucial for identifying mutations in the MTHFR gene, which encodes the enzyme methylenetetrahydrofolate reductase. This enzyme plays a vital role in the metabolism of amino acids, particularly in a biochemical pathway that converts 5,10-methylenetetrahydrofolate into 5-methyltetrahydrofolate. This conversion is essential for the transformation of the amino acid homocysteine into methionine, another amino acid necessary for various bodily functions. When mutations occur in the MTHFR gene, the enzyme's functionality is compromised, leading to an accumulation of homocysteine in the bloodstream. This condition is associated with hereditary hypercoagulability, a disorder characterized by an increased tendency to form blood clots. The inheritance pattern of this disorder is autosomal recessive, meaning that individuals must inherit the mutated gene from both parents to manifest the condition. Those who inherit the mutation from only one parent are considered carriers and typically do not exhibit symptoms. The MTHFR gene is located on chromosome 1, and the two most frequently identified mutations, 677T and 1298C, are linked to elevated levels of homocysteine and related hypercoagulability disorders. Elevated homocysteine levels can irritate blood vessels, contributing to atherosclerosis and increasing the risk of venous blood clotting. Treatment strategies for individuals with this disorder often include dietary supplementation with folate (folic acid) and vitamins B6 and B12. Molecular genetic testing is particularly indicated for individuals presenting with symptoms of hereditary hypercoagulability or those with a family history of the disorder, facilitating early diagnosis and management.
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The molecular genetic testing for the MTHFR gene analysis (CPT® Code 81291) is indicated for individuals who exhibit symptoms associated with hereditary hypercoagulability or have a family history of the disorder. The following conditions and symptoms may warrant this testing:
The procedure for MTHFR gene analysis involves several key steps to ensure accurate identification of the gene mutations. The following outlines the procedural steps:
After the MTHFR gene analysis is completed, patients may receive counseling regarding the results and their implications. If mutations are identified, healthcare providers may recommend lifestyle modifications, including dietary changes and supplementation with folate, vitamins B6, and B12, to manage elevated homocysteine levels. Additionally, patients may be monitored for any symptoms of hereditary hypercoagulability and may require further testing or interventions based on their individual risk factors. Follow-up appointments may be scheduled to discuss the results in detail and to develop a comprehensive management plan tailored to the patient's needs.
| Short Descr | MTHFR GENE | Medium Descr | MTHFR GENE ANALYSIS COMMON VARIANTS | Long Descr | MTHFR (5,10-methylenetetrahydrofolate reductase) (eg, hereditary hypercoagulability) gene analysis, common variants (eg, 677T, 1298C) | Status Code | Statutory Exclusion (from MPFS, may be paid under other methodologies) | Global Days | XXX - Global Concept Does Not Apply | PC/TC Indicator (26, TC) | 9 - Not Applicable | Multiple Procedures (51) | 9 - Concept does not apply. | Bilateral Surgery (50) | 9 - Concept does not apply. | Physician Supervisions | 09 - Concept does not apply. | Assistant Surgeon (80, 82) | 9 - Concept does not apply. | Co-Surgeons (62) | 9 - Concept does not apply. | Team Surgery (66) | 9 - Concept does not apply. | Diagnostic Imaging Family | 99 - Concept Does Not Apply | CLIA Waived (QW) | No | APC Status Indicator | Service Paid under Fee Schedule or Payment System other than OPPS | Type of Service (TOS) | 5 - Diagnostic Laboratory | Berenson-Eggers TOS (BETOS) | T1H - Lab tests - other (non-Medicare fee schedule) | MUE | 1 | CCS Clinical Classification | 234 - Pathology |
| GZ | Item or service expected to be denied as not reasonable and necessary | 90 | Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number. | 59 | Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25. | GA | Waiver of liability statement issued as required by payer policy, individual case | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | 91 | Repeat clinical diagnostic laboratory test: in the course of treatment of the patient, it may be necessary to repeat the same laboratory test on the same day to obtain subsequent (multiple) test results. under these circumstances, the laboratory test performed can be identified by its usual procedure number and the addition of modifier 91. note: this modifier may not be used when tests are rerun to confirm initial results; due to testing problems with specimens or equipment; or for any other reason when a normal, one-time, reportable result is all that is required. this modifier may not be used when other code(s) describe a series of test results (eg, glucose tolerance tests, evocative/suppression testing). this modifier may only be used for laboratory test(s) performed more than once on the same day on the same patient. | CC | Procedure code change (use 'cc' when the procedure code submitted was changed either for administrative reasons or because an incorrect code was filed) | GW | Service not related to the hospice patient's terminal condition | GY | Item or service statutorily excluded, does not meet the definition of any medicare benefit or, for non-medicare insurers, is not a contract benefit | XS | Separate structure, a service that is distinct because it was performed on a separate organ/structure |
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| 2012-01-01 | Added | Added |
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