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Official Description

MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (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 81292 pertains to the molecular genetic testing of the MLH1 gene, which is crucial for identifying mutations that increase the risk of developing colorectal cancer and other associated cancers. The MLH1 gene, located on chromosome 3, plays a vital role in encoding proteins responsible for DNA repair. When mutations occur in this gene, they can either prevent the production of the MLH1 protein or alter its structure, impairing its ability to function effectively. This impairment leads to the accumulation of unrepaired DNA errors, which can result in uncontrolled cell proliferation and the formation of tumors. The most prevalent condition associated with MLH1 mutations is hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome. This condition significantly elevates the risk of various cancers, including those of the endometrium, ovaries, prostate, stomach, small intestine, liver, gallbladder duct, upper urinary tract, brain, and skin. The full sequence analysis performed under CPT® Code 81292 involves a comprehensive examination of the MLH1 gene to identify specific mutations, including point mutations or single nucleotide polymorphisms, which are the most common types of alterations found in this gene. Additionally, when a mutation is identified in an individual, it is recommended that family members undergo genetic testing to assess the presence of familial variants, thereby aiding in the evaluation of cancer risk among relatives.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The MLH1 gene analysis is indicated for individuals who may be at increased risk of hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome. The following conditions 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 the MLH1 mutation.
  • Personal History of Colorectal Cancer Patients diagnosed with colorectal cancer, particularly at a young age, may undergo testing to identify potential genetic predispositions.
  • Multiple Cancers Individuals with a history of multiple primary cancers, especially those associated with Lynch syndrome, are candidates for MLH1 gene analysis.
  • Endometrial Cancer Women diagnosed with endometrial cancer, particularly if diagnosed before age 50, may be tested for MLH1 mutations.

2. Procedure

The procedure for MLH1 gene analysis involves several key steps to ensure accurate identification of mutations:

  • Sample Collection A blood sample or saliva sample 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 laboratory techniques that isolate the genetic material for further analysis.
  • Full Sequence Analysis The extracted DNA is subjected to full sequence analysis, which involves comparing the MLH1 gene segments to identify any mutations. This analysis looks for point mutations or single nucleotide polymorphisms that may indicate a genetic predisposition to cancer.
  • Data Interpretation The results of the analysis are interpreted by genetic specialists who assess the presence of mutations and their potential implications for cancer risk.
  • Reporting Results A comprehensive report is generated, detailing the findings of the analysis, including any identified mutations and recommendations for further testing for family members if applicable.

3. Post-Procedure

After the MLH1 gene analysis is completed, individuals may receive counseling regarding the results. If a mutation is identified, genetic counseling is recommended for both the individual and their family members to discuss the implications of the findings, potential cancer risks, and options for surveillance or preventive measures. It is important for family members to consider testing for familial variants to understand their own risk factors. Follow-up appointments may be scheduled to discuss the results in detail and to plan any necessary medical management or screening protocols based on the findings.

Short Descr MLH1 GENE FULL SEQ
Medium Descr MLH1 GENE ANALYSIS FULL SEQUENCE ANALYSIS
Long Descr MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (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.

0158U Add-on Code APC A MLH1 (mutL homolog 1) (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)
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.
GZ Item or service expected to be denied as not reasonable and necessary
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.
XS Separate structure, a service that is distinct because it was performed on a separate organ/structure
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
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2012-01-01 Added Added
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