Summary & Overview
CPT 81162: BRCA1 and BRCA2 Full Gene Sequencing and Deletion/Duplication Analysis
CPT code 81162 identifies the technical laboratory service for full gene sequencing and deletion/duplication analysis of BRCA1 and BRCA2, two genes central to hereditary breast and ovarian cancer risk. Nationally, this code matters because it underpins diagnostic workflows that guide genetic counseling, risk stratification, and preventive care decisions for individuals with suspected hereditary cancer syndromes. Payers commonly engaged in coverage and payment for this service include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare.
This publication provides a concise overview of what CPT code 81162 represents, how it is used in clinical molecular diagnostics, and the typical laboratory setting where the technical component occurs. Readers will find benchmarks and policy-relevant context related to payer coverage patterns, coding and billing considerations for the technical component, and clinical context about when full BRCA1/BRCA2 sequencing and structural variant testing are clinically relevant. The content also highlights common modifiers that appear alongside technical laboratory codes and notes where input data is not available. The goal is to give coding managers, laboratory billing staff, and policy analysts a clear, national-level summary of CPT code 81162 and the operational considerations that influence its use.
Billing Code Overview
CPT code 81162 describes the technical laboratory testing that analyzes the full gene sequences of BRCA1 and BRCA2 and includes the technical steps to evaluate those genes for deletions and duplications. The service focuses on laboratory processing and analytical work performed by a lab analyst to produce genetic sequence data and structural variant assessment for the BRCA1 and BRCA2 genes.
-
Service type: Clinical molecular diagnostic laboratory service — full gene sequencing and deletion/duplication analysis for hereditary breast and ovarian cancer genes.
-
Typical site of service: Clinical or commercial diagnostic laboratory (primary technical component performed in the laboratory setting).
Clinical & Coding Specifications
Clinical Context
A 42-year-old woman with a strong family history of breast and ovarian cancer is referred to a genetics clinic for hereditary cancer testing. The clinician documents maternal relatives with early-onset breast cancer and a known BRCA-related cancer in a first-degree relative. After genetic counseling, the clinician orders full-sequence and large rearrangement analysis of the BRCA1 and BRCA2 genes. A phlebotomy draw is obtained in an outpatient laboratory; the specimen is received by a molecular diagnostics laboratory where a lab analyst performs the technical sequencing and deletion/duplication analysis described by 81162. The technical workflow includes nucleic acid extraction, library preparation, next-generation sequencing (or equivalent full-gene sequencing), bioinformatic alignment and variant calling, and reflex or concurrent testing for large genomic rearrangements (deletions/duplications) using multiplex ligation-dependent probe amplification or comparable methods. The typical site of service is an outpatient hospital laboratory or independent molecular diagnostic laboratory. Results are reported to the ordering clinician and may prompt cascade testing for family members or targeted clinical management decisions.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | Use when reporting only the professional (interpretive) component by a physician or qualified professional. |