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The CPT® Code 81296 pertains to the molecular genetic testing of the MSH2 gene, specifically focusing on known familial variants associated with hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome. This testing is crucial for identifying specific mutations within the MSH2 gene that significantly increase an individual's risk of developing colorectal cancer and other related malignancies. The MSH2 gene is located on chromosome 2 and plays a vital role in the DNA mismatch repair system. It forms part of a protein complex that detects and corrects errors that occur during DNA replication. When these errors are not repaired, they can accumulate, leading to uncontrolled cell growth and the formation of tumors. HNPCC is the most prevalent cancer syndrome linked to mutations in the MSH2 gene, but it is important to note that tumors can also arise in various other organs, including the endometrium, ovaries, prostate, stomach, small intestine, liver, gallbladder duct, upper urinary tract, brain, and skin. Lynch syndrome is identified in approximately 40 percent of individuals diagnosed with HNPCC, highlighting the significant hereditary risk associated with this condition. The testing process for CPT® Code 81296 is particularly relevant when a family member has already been identified with a mutation in the MSH2 gene. In such cases, molecular genetic testing is recommended for other family members to determine if they carry the same mutation. Those who test positive for the familial variant should receive genetic counseling and may be offered clinical supervision to monitor their health proactively. This testing is distinct from other codes such as 81295, which involves full sequence analysis of the gene, and 81297, which focuses on deletion or duplication variants of the MSH2 gene.
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The MSH2 gene analysis (CPT® Code 81296) is indicated for individuals who have a known familial variant of the MSH2 gene associated with hereditary non-polyposis colorectal cancer (HNPCC), also referred to as Lynch syndrome. The following conditions warrant this genetic testing:
The procedure for CPT® Code 81296 involves several key steps to ensure accurate identification of known familial variants in the MSH2 gene:
After the MSH2 gene analysis is completed, individuals may receive counseling based on the results. If a known familial variant is detected, it is essential for the individual to understand the implications of the results, including their increased risk for developing colorectal and other associated cancers. Genetic counseling is recommended to discuss potential surveillance strategies, preventive measures, and the importance of informing other family members about the findings. If no familial variant is identified, the individual may still benefit from general cancer screening recommendations based on their family history and other risk factors. Follow-up appointments may be scheduled to monitor health and discuss any further testing or preventive options.
| Short Descr | MSH2 GENE KNOWN VARIANTS | Medium Descr | MSH2 GENE ANALYSIS KNOWN FAMILIAL VARIANTS | Long Descr | MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial 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 |
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| 2012-01-01 | Added | Added |
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