Summary & Overview
CPT 81323: PTEN Gene Large-Deletion/Duplication Analysis
CPT code 81323 identifies the technical laboratory procedure for detecting large deletions and duplications in the PTEN gene. This molecular diagnostic test is clinically important for identifying genetic alterations associated with PTEN hamartoma tumor syndromes and other hereditary cancer predisposition conditions. Nationally, accurate detection of PTEN copy-number changes informs genetic counseling, surveillance, and therapeutic decision-making for affected individuals.
The analysis covers major national payers including Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find an overview of the service definition and clinical context, payer coverage considerations, common modifiers and billing notes, and benchmarking where available. The publication summarizes what typical laboratories submit under this code, expected site-of-service patterns (clinical molecular diagnostics and reference labs), and the operational implications for billing and claims processing.
This report is intended to provide a concise reference for coding, billing, and clinical teams about the purpose and use of CPT code 81323, the typical laboratory setting where the service is performed, and the payer landscape relevant to national practice. Data not available in the input are noted where applicable.
Billing Code Overview
CPT code 81323 describes a technical laboratory assay that detects large-scale deletions or duplications in the PTEN (phosphatase and tensin homolog) gene. The service involves laboratory processing and analysis of DNA to identify long-sequence copy-number changes in the PTEN gene that can have clinical significance for cancer predisposition and other genetic conditions.
Service Type: Genetic testing — molecular diagnostic (technical component)
Typical Site of Service: Clinical molecular diagnostics laboratory or reference genetic testing laboratory
Data not available in the input.
Clinical & Coding Specifications
Clinical Context
A patient presents to a genetics clinic or oncology clinic with a history of multiple hamartomatous growths, early-onset breast cancer, macrocephaly, or suggestions of a PTEN hamartoma tumor syndrome. The clinician documents personal or family history suspicious for pathogenic variants in the PTEN gene based on clinical criteria (eg, Cowden syndrome features) and orders molecular genetic testing. A blood sample (or tissue sample if warranted) is collected and sent to a reference molecular diagnostics laboratory. In the lab, a molecular technologist performs a targeted assay to detect large deletions or duplications affecting long stretches of the PTEN gene (copy-number variants and large rearrangements). Results are reviewed by a laboratory director or molecular pathologist, who interprets findings and issues a report to the ordering clinician. Typical site of service is an outpatient genetics clinic or hospital outpatient collection site with testing performed in an independent or hospital-based molecular diagnostics laboratory. The typical patient scenario includes pre-test genetic counseling, specimen collection, laboratory technical processing using deletion/duplication methodology, and post-test genetic counseling when clinically indicated.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | When billing only the professional interpretation component if the lab separates technical and professional services. |