Summary & Overview
CPT 81293: Familial MLH1 Mutation Analysis
CPT code 81293 denotes a targeted molecular diagnostic test for detecting a known, family-specific mutation in the MLH1 gene, a gene associated with hereditary nonpolyposis colorectal cancer (Lynch syndrome). This code captures laboratory work that focuses on confirming the presence of mutations already identified in a patient’s relatives, supporting genetic counseling, surveillance planning, and risk assessment. Nationwide, accurate coding for familial mutation analysis is important for consistent claims processing, patient access to hereditary cancer testing, and tracking utilization of precision diagnostics.
Key payers addressed in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a concise explanation of the clinical context for testing, typical sites of service, common modifiers associated with laboratory claims, and the implications of coding choice for claims submission and coverage workflows. The publication provides benchmarks where available, notes on payer policy alignment, and practical context for how CPT code 81293 fits into hereditary cancer testing strategies. Data not available in the input is explicitly noted where relevant.
Billing Code Overview
CPT code 81293 describes a targeted genetic test performed by a laboratory analyst to detect the presence of family-specific mutations in the MLH1 gene (mutL homolog 1), also known as the colon cancer or nonpolyposis type 2 gene. The test is designed to identify mutations already documented in a patient’s relatives, indicating focused familial mutation analysis rather than broad sequencing.
Service Type: Targeted familial mutation analysis (molecular diagnostic test)
Typical Site of Service: Clinical molecular laboratory or reference genetic testing laboratory
Data not available in the input.
Clinical & Coding Specifications
Clinical Context
A patient with a family history of Lynch syndrome (hereditary nonpolyposis colorectal cancer) is referred for targeted genetic testing to determine whether they carry a known pathogenic MLH1 family mutation. Typical patients are adults with one or more first-degree relatives diagnosed with colorectal, endometrial, gastric, small bowel, ureter/renal pelvis, or ovarian cancer at a young age, or families with a previously identified MLH1 pathogenic variant. The clinical workflow begins with genetic counseling, informed consent, and collection of a blood or buccal specimen. The laboratory performs targeted molecular analysis to detect the specific familial MLH1 mutation(s) indicated in the referral. Results are documented in the patient’s chart, reviewed by the ordering clinician or genetic counselor, and communicated to the patient with appropriate management and surveillance recommendations. Billing for the technical laboratory testing component is reported with 81293 when the lab performs the assay to detect the familial MLH1 mutation; if applicable, professional interpretation and report by a laboratory director or geneticist may be billed separately under an appropriate professional code or modifier combination.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | Use when billing only the professional interpretation/report separate from the lab technical component. |