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Official Description

MSH6 (mutS homolog 6 [E. coli]) (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 81300 pertains to the molecular genetic testing of the MSH6 gene, specifically focusing on the analysis of duplication and deletion variants. The MSH6 gene is crucial for maintaining genomic stability, as it encodes a protein that is part of a complex responsible for correcting errors that occur during DNA replication. When mutations occur in this gene, they can lead to an increased risk of developing hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome. This condition is characterized by a predisposition to various cancers, particularly colorectal and endometrial cancers, as well as other malignancies in organs such as the ovaries, prostate, stomach, and more. The MSH6 gene is located on chromosome 2 and plays a vital role in the DNA mismatch repair system. Mutations in this gene can result in the accumulation of unrepaired DNA errors, which may lead to tumor formation over time. The analysis performed under this code specifically looks for duplication or deletion variants of the MSH6 gene, which can indicate the presence of a genetic predisposition to cancer. Understanding these variants is essential for risk assessment, genetic counseling, and potential clinical management of affected individuals and their families.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The molecular genetic testing for MSH6 gene analysis is indicated for individuals who may be at increased risk of hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome. This testing is particularly relevant for:

  • Family History of HNPCC: Individuals with a family history of colorectal cancer or other associated cancers, especially if diagnosed at a young age.
  • Personal History of Cancer: Patients who have been diagnosed with colorectal cancer or endometrial cancer, particularly those with characteristics suggestive of Lynch syndrome.
  • Screening for At-Risk Relatives: Family members of individuals with known MSH6 mutations should be tested for known familial variants to assess their risk.

2. Procedure

The procedure for MSH6 gene analysis involves several key steps to ensure accurate identification of duplication and deletion variants:

  • Sample Collection: A biological sample, typically blood or saliva, is collected from the patient. This sample contains the DNA necessary for genetic analysis.
  • DNA Extraction: The DNA is extracted from the collected sample using standard laboratory techniques to isolate the genetic material for testing.
  • Genetic Analysis: The extracted DNA undergoes molecular genetic testing specifically designed to identify duplication or deletion variants in the MSH6 gene. This may involve techniques such as quantitative PCR or multiplex ligation-dependent probe amplification (MLPA) to detect the number of gene copies present.
  • Data Interpretation: The results of the genetic analysis are interpreted to determine if there are any deletion or duplication variants present. A normal gene should have two copies per cell, while zero or one copy indicates a deletion variant, and three or more copies suggest a duplication variant.
  • Reporting Results: The findings are compiled into a report that details the presence or absence of MSH6 gene variants, which is then communicated to the healthcare provider for further action.

3. Post-Procedure

After the MSH6 gene analysis is completed, the results are reviewed with the patient and their healthcare provider. If a mutation is identified, genetic counseling is recommended to discuss the implications of the findings, including the increased risk of cancer and the importance of surveillance and preventive measures. Family members may also be encouraged to undergo testing for known familial variants. Additionally, the healthcare provider may recommend regular screenings and follow-up care based on the results of the genetic analysis to monitor for any potential development of associated cancers.

Short Descr MSH6 GENE DUP/DELETE VARIANT
Medium Descr MSH6 GENE ANALYSIS DUPLICATION/DELETION VARIA
Long Descr MSH6 (mutS homolog 6 [E. coli]) (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
XU Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
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.
GA Waiver of liability statement issued as required by payer policy, individual case
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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