Summary & Overview
CPT 81167: BRCA2 Large Deletion/Duplication Analysis
CPT code 81167 represents the technical component of a molecular diagnostic assay that detects large deletions and duplications in the BRCA2 gene. This testing is used to identify large gene rearrangements that are not detected by standard sequencing and is clinically significant for hereditary breast, ovarian and related cancer risk assessment. Nationally, such specialized laboratory procedures are central to precision oncology and hereditary cancer programs.
Key payers covered in this summary include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare and Medicare. The analysis focuses on coverage and billing context for the technical laboratory service, common billing modifiers, and practical coding considerations for reporting the assay when performed in a clinical or hospital laboratory.
Readers will find a concise clinical context for why BRCA2 large rearrangement testing matters, an outline of service type and typical site of service, and an overview of issues relevant to reimbursement and claims processing such as payer coverage patterns and common modifiers. Data not available in the input is noted where applicable.
Billing Code Overview
CPT code 81167 describes a laboratory technical procedure that analyzes the BRCA2, DNA repair–associated gene for deletions and duplications to detect large gene rearrangements. The service is a molecular diagnostic test focused on identifying structural variants in the BRCA2 gene that can affect hereditary cancer risk.
Service Type: Molecular genetics / Diagnostic laboratory testing
Typical Site of Service: Clinical laboratory or hospital laboratory
Clinical & Coding Specifications
Clinical Context
A patient referred for hereditary cancer testing presents to an outpatient genetics clinic after a strong personal or family history of breast, ovarian, pancreatic, or prostate cancer, or after prior single-gene testing that did not detect point mutations. The clinician documents the indication and obtains informed consent for genetic testing, including discussions of possible large rearrangement detection and implications for relatives. A blood or buccal sample is collected in the clinic and sent to a reference molecular laboratory. In the laboratory, a molecular technologist performs the technical assay to detect large deletions and duplications in the BRCA2 gene using methods such as multiplex ligation-dependent probe amplification (MLPA), quantitative PCR, or next-generation sequencing with copy-number variant analysis. The laboratory generates a technical report of findings; a board-certified molecular geneticist reviews and issues the final interpreted report (professional component). Billing for this service uses the technical component or global code as appropriate, with documentation of specimen accessioning, assay performed, quality control, and result verification. Typical site of service is an outpatient ambulatory clinic for collection and a clinical molecular laboratory for testing. Typical patient scenario: an adult with early-onset breast cancer (diagnosed <50 years), a first-degree relative with ovarian cancer, or a family history suggestive of hereditary breast and ovarian cancer syndrome, requiring comprehensive BRCA2 testing specifically to identify large gene rearrangements not detected by sequence analysis alone.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 |