Summary & Overview
CPT 81295: Full-Gene Sequencing of MSH2 (MutS Homolog 2)
CPT code 81295 represents full-gene sequencing and analysis of the MSH2 (mutS homolog 2) gene, a clinically significant assay for identifying germline variants linked to hereditary nonpolyposis colorectal cancer. As a molecular diagnostic procedure, this test informs genetic risk assessment, cascade testing, and clinical management decisions for patients with suspected hereditary colorectal cancer syndromes. Nationally, availability and coverage of comprehensive single-gene sequencing remain important for precision oncology and preventive care pathways.
Key payers addressed in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. The publication provides a concise review of coverage context and typical service delivery settings for CPT code 81295.
Readers will learn the clinical purpose of the test, the typical laboratory setting where the service is performed, and the high-level payer landscape relevant to policy and billing. The report also outlines the types of benchmarks and policy updates normally examined for molecular diagnostic CPT codes, and situates the code within clinical workflows for hereditary cancer evaluation. Data not available in the input is identified where applicable.
Billing Code Overview
CPT code 81295 describes a laboratory procedure in which the technical component performs sequencing and analysis of the entire coding region of the mutS homolog 2 (MSH2) gene, also known as the colon cancer or nonpolyposis type 1 gene. This test evaluates the full gene sequence to identify germline sequence variants associated with hereditary colorectal cancer risk.
Service Type: Genetic sequencing / molecular diagnostic testing
Typical Site of Service: Clinical molecular diagnostics laboratory
Data not available in the input.
Clinical & Coding Specifications
Clinical Context
A 42-year-old patient with a strong family history of colorectal and endometrial cancer is referred to genetics after meeting criteria for Lynch syndrome evaluation. The clinician documents a personal history of early-onset colorectal adenocarcinoma and requests comprehensive germline sequencing of the MSH2 gene to evaluate for pathogenic variants associated with Lynch syndrome. The workflow includes outpatient genetic counseling, informed consent, sample collection (peripheral blood draw), specimen accessioning and DNA extraction by the molecular laboratory, full gene sequencing and variant analysis using next-generation sequencing, laboratory interpretation and classification of variants per ACMG guidelines, and final report delivery to the ordering provider and the patient. If a pathogenic variant is identified, cascade testing is recommended for at-risk relatives; variants of uncertain significance are reported with recommended follow-up and possible reflex testing of other mismatch repair genes or immunohistochemistry on tumor tissue.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | Use when reporting only the professional interpretation of the molecular test separate from the technical lab work when billed by a physician or qualified healthcare professional. |