Summary & Overview
CPT 81164: BRCA1/BRCA2 Large Rearrangement Analysis
CPT code 81164 represents the technical component of molecular testing that evaluates the BRCA1 and BRCA2 genes for deletions and duplications, detecting large gene rearrangements. This code captures a specialized laboratory procedure that informs hereditary cancer risk assessment and can influence clinical management for patients with suspected hereditary breast and ovarian cancer. Nationally, accurate coding for BRCA large rearrangement testing matters for coverage determination, lab billing consistency, and aggregate utilization tracking.
Key payers included in this analysis are Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a national-focused overview of clinical context and the code's role in genetic diagnostics, along with benchmarking information where available and relevant policy or coverage considerations. The publication outlines common billing and reporting practices tied to the technical component of BRCA large rearrangement testing, typical sites of service, and how this code fits into molecular pathology service lines.
The content emphasizes clinical relevance, coding definition, and what users can expect to learn about payment and utilization patterns at a national level. Data not available in the input will be noted as such in detailed sections.
Billing Code Overview
CPT code 81164 describes a laboratory technical service in which a lab analyst performs testing to analyze the BRCA1 and BRCA2 genes for gene deletions and duplications to detect large gene rearrangements. This is a molecular diagnostic assay focused on identifying large-scale copy-number changes in the BRCA genes associated with hereditary breast and ovarian cancer risk.
Service type: Molecular pathology / genetic testing (technical component)
Typical site of service: Clinical laboratory or reference molecular diagnostics laboratory (inpatient or outpatient specimen processing)
Clinical & Coding Specifications
Clinical Context
A patient is a woman with a personal or strong family history of breast and/or ovarian cancer, referred by a genetic counselor or oncologist for comprehensive hereditary breast/ovarian cancer testing. The clinical workflow begins with pre-test counseling documenting personal and family cancer history and informed consent for germline testing. A blood or saliva sample is collected at an outpatient clinic or phlebotomy center (typical site of service: outpatient laboratory or molecular diagnostics laboratory). The specimen is sent to the molecular genetics laboratory where a medical technologist/technician prepares nucleic acid for analysis. The laboratory performs sequence analysis and reflexes to large rearrangement testing when indicated; 81164 specifically describes the technical assay to detect large deletions and duplications (gene-level copy number changes) in the BRCA1 and BRCA2 genes. Results are reviewed by a laboratory director or molecular pathologist, and a finalized report is released to the ordering clinician and genetic counselor for post-test counseling and management decisions.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | When reporting the physician or pathologist's professional interpretation separate from the technical lab work (note: 81164 is a technical lab code). |