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The CPT® Code 81317 pertains to the molecular genetic testing of the PMS2 gene, which is crucial for identifying specific mutations that increase an individual's risk of developing hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome. The PMS2 gene is located on chromosome 7 and plays a vital role in the DNA repair process by providing instructions for producing proteins that are essential for correcting DNA errors. When mutations occur in the PMS2 gene, they can lead to the production of an abnormally short or inactive PMS2 protein, which is less effective at repairing DNA. This inefficiency results in the accumulation of unrepaired DNA errors over time, ultimately allowing for the uncontrolled proliferation of cells that can develop into tumors. Individuals with PMS2 mutations are at an increased risk not only for colorectal cancer but also for other types of cancer, including certain brain tumors associated with a variant form of Lynch syndrome known as Turcot syndrome. This condition is characterized by the presence of glioblastoma, a type of brain tumor, alongside colorectal cancer. It is important to note that some individuals may develop HNPCC 'de novo,' meaning the mutation arises spontaneously in the germ cells or fertilized egg, rather than being inherited from a parent. The full sequence analysis performed under CPT® Code 81317 involves a comprehensive examination of the PMS2 gene to identify any mutations, including point mutations or single nucleotide polymorphisms. This analysis is particularly challenging due to the presence of pseudogenes, which are non-functional copies of the PMS2 gene that can complicate the identification of true mutations. The testing process may also include the evaluation of familial variants and duplication/deletion variants, as indicated by related CPT® codes 81318 and 81319, to assess the risk factors for family members who may share the same genetic mutation. Additionally, immunohistochemistry (IHC) may be utilized on tumor tissues to evaluate the presence or absence of specific proteins, further aiding in the understanding of the genetic landscape associated with PMS2 mutations.
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The PMS2 gene analysis (CPT® Code 81317) is indicated for individuals who are at an increased risk of developing hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome. The following conditions and circumstances warrant this genetic testing:
The procedure for CPT® Code 81317 involves a detailed full sequence analysis of the PMS2 gene, which includes the following steps:
After the PMS2 gene analysis is completed, the following post-procedure considerations are important:
Patients will receive a report detailing the results of the genetic testing, which may indicate the presence or absence of PMS2 mutations. If a mutation is identified, genetic counseling is recommended to discuss the implications for the patient and their family members. This counseling may include information on the risks of developing associated cancers, the potential need for increased surveillance, and options for testing other family members for the same mutation. Additionally, healthcare providers may recommend follow-up screenings or preventive measures based on the results of the genetic analysis. If no mutations are found, the patient may still be advised on general cancer screening guidelines, as the absence of a PMS2 mutation does not eliminate the risk of colorectal or other cancers.
| Short Descr | PMS2 GENE FULL SEQ ANALYSIS | Medium Descr | PMS2 GENE ANALYSIS FULL SEQUENCE | Long Descr | PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis | 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 |
This is a primary code that can be used with these additional add-on codes.
| 0161U | Add-on Code APC A PMS2 (PMS1 homolog 2, mismatch repair system component) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) mRNA sequence analysis (List separately in addition to code for primary procedure) | 0162U | Add-on Code APC A Hereditary colon cancer (Lynch syndrome), targeted mRNA sequence analysis panel (MLH1, MSH2, MSH6, PMS2) (List separately in addition to code for primary procedure) |
| 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. | XS | Separate structure, a service that is distinct because it was performed on a separate organ/structure | 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 | GW | Service not related to the hospice patient's terminal condition | 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. | GA | Waiver of liability statement issued as required by payer policy, individual case | 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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