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The CPT® Code 81319 pertains to the molecular genetic testing of the PMS2 gene, specifically focusing on the identification of duplication or deletion variants. The PMS2 gene is crucial for the proper functioning of DNA repair mechanisms, and mutations in this gene can significantly increase an individual's risk of developing hereditary non-polyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. This genetic condition is characterized by a predisposition to colorectal cancer and other types of cancer, including endometrial and ovarian cancers. The PMS2 gene is located on chromosome 7 and encodes a protein that plays a vital role in the DNA mismatch repair system. When mutations occur, they can lead to the production of an abnormally short or nonfunctional PMS2 protein, which compromises the cell's ability to repair DNA errors. Over time, these unrepaired errors can accumulate, resulting in uncontrolled cell proliferation and tumor formation. In some cases, individuals may develop HNPCC due to a de novo mutation, meaning the mutation arises spontaneously in the germ cell or fertilized egg rather than being inherited from a parent. The testing associated with CPT® Code 81319 is essential for identifying specific genetic alterations that may inform risk assessment and management strategies for affected individuals and their families.
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The PMS2 gene analysis using CPT® Code 81319 is indicated for individuals who may be at increased risk for hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome. The following conditions and scenarios warrant this genetic testing:
The procedure for CPT® Code 81319 involves several critical steps to accurately analyze the PMS2 gene for duplication and deletion variants:
After the genetic testing associated with CPT® Code 81319 is completed, patients may receive counseling regarding the results. If a PMS2 mutation is identified, healthcare providers may recommend further testing for family members to assess their risk. Additionally, individuals with identified mutations may be advised on increased surveillance for colorectal and other associated cancers, as well as potential preventive measures. It is essential for patients to discuss the implications of their test results with a genetic counselor or healthcare provider to understand their personal risk and the options available for management and prevention.
| Short Descr | PMS2 GENE DUP/DELET VARIANTS | Medium Descr | PMS2 GENE ANALYSIS DUPLICATION/DELETION VARIANTS | Long Descr | PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (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. | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | 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. | GW | Service not related to the hospice patient's terminal condition | GZ | Item or service expected to be denied as not reasonable and necessary |
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| 2012-01-01 | Added | Added |
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