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The CPT® Code 81294 pertains to the molecular genetic testing of the MLH1 gene, specifically focusing on the analysis of duplication and deletion variants. The MLH1 gene, located on chromosome 3, plays a crucial role in the body's ability to repair DNA. Mutations in this gene can significantly increase an individual's risk of developing colorectal cancer and other associated cancers. This condition is often referred to as hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome, which is characterized by a higher likelihood of various cancers, including those of the endometrium, ovaries, prostate, stomach, small intestine, liver, gallbladder duct, upper urinary tract, brain, and skin. The testing process aims to identify specific mutations that may prevent the production of the MLH1 protein or alter its function, leading to the accumulation of unrepaired DNA errors. These errors can result in uncontrolled cell proliferation, ultimately leading to tumor formation. The analysis for deletion and duplication variants is essential, as a normal MLH1 gene should have two copies per cell, with deviations indicating potential genetic issues. A deletion variant is indicated by the presence of zero or one copy, while a duplication variant is suggested by three or more copies. Understanding these genetic variations is vital for assessing cancer risk in affected individuals and their family members, as it can guide further testing and preventive measures.
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The MLH1 gene analysis (CPT® Code 81294) is indicated for individuals who may be at increased risk of hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome. The following conditions and circumstances warrant this genetic testing:
The procedure for CPT® Code 81294 involves several key steps to accurately analyze the MLH1 gene for deletion and duplication variants:
After the MLH1 gene analysis is completed, individuals may receive counseling regarding the results. If a deletion or duplication variant is identified, genetic counseling is recommended for the individual and their family members to discuss the implications of the findings, including cancer risk assessment and potential screening recommendations. Follow-up testing may be suggested for family members to determine if they carry the same genetic variants. Additionally, healthcare providers may discuss preventive measures and surveillance strategies tailored to the individual's risk profile based on the test results.
| Short Descr | MLH1 GENE DUP/DELETE VARIANT | Medium Descr | MLH1 GENE ANALYSIS DUPLICATION/DELETION VARIANTS | Long Descr | MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants | 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 |
| 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. | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | GZ | Item or service expected to be denied as not reasonable and necessary | GA | Waiver of liability statement issued as required by payer policy, individual case |
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| 2012-01-01 | Added | Added |
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