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Official Description

MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

The CPT® Code 81297 pertains to the molecular genetic testing of the MSH2 gene, specifically focusing on the analysis of duplication and deletion variants. The MSH2 gene is crucial in the context of hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, which significantly increases an individual's risk of developing colorectal cancer and other associated malignancies. Located on chromosome 2, the MSH2 gene is part of a protein complex that plays a vital role in the DNA repair process. This complex identifies errors that occur during DNA replication and facilitates their correction, thereby preventing the accumulation of mutations that can lead to tumor formation. Individuals with mutations in the MSH2 gene may not only face a heightened risk of colorectal cancer but also other cancers, including those of the endometrium, ovaries, prostate, stomach, small intestine, liver, gallbladder duct, upper urinary tract, brain, and skin. The identification of these mutations is critical for early intervention and management of cancer risk. The testing process for MSH2 gene mutations includes various methodologies, such as full sequence analysis and familial variant analysis, which help in identifying specific mutations and their implications for family members. In particular, the analysis for deletion and duplication variants, as indicated by CPT® Code 81297, is essential for understanding the genetic landscape of HNPCC, as it can reveal significant alterations in the number of gene copies, which are indicative of potential cancer risks.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The MSH2 gene analysis, as described by CPT® Code 81297, is indicated for individuals who may be at increased risk of hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome. The following conditions and scenarios warrant this genetic testing:

  • Family History of Lynch Syndrome Individuals with a family history of Lynch syndrome or related cancers may be tested to determine if they carry MSH2 gene mutations.
  • Personal History of Colorectal Cancer Patients diagnosed with colorectal cancer, particularly at a young age or with multiple primary cancers, may be candidates for this testing.
  • Other Associated Cancers Individuals with a personal or family history of cancers associated with Lynch syndrome, such as endometrial, ovarian, or gastric cancers, may also be evaluated.

2. Procedure

The procedure for MSH2 gene analysis for deletion and duplication variants involves several key steps to ensure accurate results:

  • Sample Collection A biological sample, typically blood or saliva, is collected from the individual undergoing testing. This sample contains the DNA necessary for analysis.
  • DNA Extraction The DNA is extracted from the collected sample using standardized laboratory techniques to isolate the genetic material for further analysis.
  • Genetic Analysis The extracted DNA is subjected to specific assays designed to detect deletion and duplication variants in the MSH2 gene. This may involve techniques such as quantitative PCR or multiplex ligation-dependent probe amplification (MLPA) to identify the number of gene copies present.
  • Data Interpretation The results of the genetic analysis are interpreted by qualified geneticists or molecular pathologists, who assess the presence of any deletion or duplication variants in the MSH2 gene.
  • Reporting A comprehensive report is generated, detailing the findings of the analysis, including any identified variants and their potential implications for cancer risk.

3. Post-Procedure

After the MSH2 gene analysis is completed, individuals may receive counseling based on the results. If a deletion or duplication variant is identified, it is crucial for the individual and their family members to understand the implications of these findings. Genetic counseling is recommended to discuss the risks of hereditary cancer syndromes, potential surveillance strategies, and preventive measures. Additionally, family members may be encouraged to undergo testing to determine their own risk status. Follow-up care may include regular screenings for associated cancers, depending on the results and family history.

Short Descr MSH2 GENE DUP/DELETE VARIANT
Medium Descr MSH2 GENE ANALYSIS DUPLICATION/DELETION VARIANTS
Long Descr MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (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.
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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