Coding Ahead
CasePilot
Medical Coding Assistant
Case2Code
Search and Code Lookup Tool
RedactPHI
HIPAA-Compliant PHI Redaction
DetectICD10CM
ICD-10-CM Code Detection
Log in Register free account
1 code page views remaining. Guest accounts are limited to 1 page view. Register free account to get 5 more views.
Log in Register free account

Official Description

MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

The CPT® Code 81298 pertains to the molecular genetic testing of the MSH6 gene, which is crucial for identifying specific mutations that may increase an individual's risk of developing hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome. The MSH6 gene is located on chromosome 2 and plays a vital role in the DNA repair process. It is part of a protein complex that works alongside the MSH1/PMS2 complex to detect and correct errors that occur during DNA replication. When these errors are not repaired, they can accumulate over time, leading to uncontrolled cell growth and the formation of tumors. HNPCC is the most prevalent cancer associated with mutations in the MSH6 gene, but such mutations can also lead to cancers in other organs, including the endometrium, ovaries, prostate, stomach, small intestine, liver, gallbladder duct, upper urinary tract, brain, and skin. The presence of MSH6 mutations is particularly significant in individuals with Lynch syndrome, which is found in approximately 10 percent of those diagnosed with HNPCC. This condition is characterized by an increased risk of developing various cancers, particularly colorectal and endometrial cancers, often at an older age. The MSH6 gene mutation is associated with a higher incidence of endometrial cancers compared to mutations in other related genes, such as MLH1 and MSH2. Additionally, specific mutations have been identified with greater frequency in Ashkenazi Jewish populations, with affected individuals typically experiencing the onset of tumors later in life. The full sequence analysis performed under CPT® Code 81298 involves comparing segments of the MSH6 gene to identify any mutations, including point mutations or single nucleotide polymorphisms, which are the most common types of alterations observed. This analysis is essential for understanding the genetic predisposition to cancer and guiding further testing and counseling for family members who may also be at risk.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The MSH6 gene analysis (CPT® Code 81298) is indicated for individuals who may be at increased risk of hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome. The following conditions and circumstances warrant this genetic testing:

  • Family History of Lynch Syndrome: Individuals with a family history of Lynch syndrome or related cancers, particularly colorectal and endometrial cancers, may be tested to identify potential MSH6 mutations.
  • Personal History of Colorectal Cancer: Patients diagnosed with colorectal cancer at an older age, especially if they have a family history of similar cancers, may be candidates for MSH6 gene analysis.
  • Endometrial Cancer Diagnosis: Women diagnosed with endometrial cancer, particularly those with a family history of Lynch syndrome, should consider testing for MSH6 mutations.
  • Identification of Known Familial Variants: Family members of individuals with identified MSH6 mutations should undergo testing for known familial variants to assess their own risk.

2. Procedure

The procedure for MSH6 gene analysis involves several key steps to ensure accurate identification of mutations. The following procedural steps are performed:

  • Sample Collection: A biological sample, typically blood or saliva, is collected from the patient. 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 testing.
  • Full Sequence Analysis: A comprehensive full sequence analysis of the MSH6 gene is conducted. This involves comparing the gene segments to identify any mutations, including point mutations or single nucleotide polymorphisms, that may indicate a predisposition to cancer.
  • Data Interpretation: The results of the genetic analysis are interpreted by qualified geneticists or molecular pathologists, who assess the significance of any identified mutations in relation to cancer risk.
  • Reporting Results: A detailed report is generated, summarizing the findings of the analysis, including any identified mutations and their potential implications for the patient and their family members.

3. Post-Procedure

After the MSH6 gene analysis is completed, several post-procedure considerations are important for patient care. Patients will receive the results of their genetic testing, which may indicate the presence of mutations associated with an increased risk of cancer. If a mutation is identified, genetic counseling is recommended to discuss the implications of the results, potential surveillance strategies, and options for family testing. Individuals who test positive for MSH6 mutations may be advised to undergo regular screenings and preventive measures to monitor for the development of cancers associated with Lynch syndrome. Additionally, family members may be encouraged to participate in genetic testing to determine their own risk status. It is essential for patients to have access to appropriate clinical supervision and support following the results of their genetic analysis.

Short Descr MSH6 GENE FULL SEQ
Medium Descr MSH6 GENE ANALYSIS FULL SEQUENCE ANALYSIS
Long Descr MSH6 (mutS homolog 6 [E. coli]) (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.

0160U Add-on Code APC A MSH6 (mutS homolog 6) (eg, hereditary colon 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)
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.
XS Separate structure, a service that is distinct because it was performed on a separate organ/structure
GW Service not related to the hospice patient's terminal condition
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
GV Attending physician not employed or paid under arrangement by the patient's hospice provider
GZ Item or service expected to be denied as not reasonable and necessary
Date
Action
Notes
2012-01-01 Added Added
Code
Description
Code
Description
Code
Description
Code
Description
CasePilot

Get instant expert-level medical coding assistance.

Ask about:
CPT Codes Guidelines Modifiers Crosswalks NCCI Edits Compliance Medicare Coverage
Example: "What is CPT code 99213?" or "Guidelines for E/M services"