Summary & Overview
CPT 81322: PTEN Familial Mutation Analysis
CPT code 81322 represents a targeted molecular diagnostic test for detecting familial mutations in the PTEN (phosphatase and tensin homolog) gene. This code is used when a laboratory performs analysis specifically to identify mutations already known to be present in a patient’s family, supporting clinical evaluation of inherited PTEN-related conditions. Nationally, targeted familial testing is an important element of hereditary cancer and syndrome evaluation pathways because it enables focused, cost-effective confirmation of known familial variants.
Key payers commonly covering such molecular diagnostics include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Coverage policies and medical necessity criteria vary across commercial plans and Medicare, particularly regarding documentation of the family variant, prior genetic counseling, and clinical indication.
Readers will learn what CPT code 81322 represents clinically and operationally, which payer categories are commonly involved, and the typical clinical context for ordering (family-specific PTEN variant confirmation). The publication also presents national benchmarks and policy considerations relevant to laboratory billing and coding for targeted hereditary testing, and outlines common modifiers and administrative details where available. Data not available in the input will be noted where applicable.
Billing Code Overview
CPT code 81322 describes a targeted molecular diagnostic test performed by a laboratory analyst to detect the presence of family-specific mutations in the phosphatase and tensin homolog (PTEN) gene. The service focuses on identifying known hereditary PTEN gene mutations when those variants have already been observed in family members.
Service type: Genetic testing — targeted/familial mutation analysis
Typical site of service: Clinical laboratory or reference molecular diagnostics laboratory
Clinical & Coding Specifications
Clinical Context
A patient with a known family history of pathogenic PTEN gene variants is referred for targeted molecular testing to determine whether they carry the familial mutation. Typical patients include adult or pediatric family members of a proband previously identified with a PTEN pathogenic or likely pathogenic variant associated with PTEN hamartoma tumor syndrome (including Cowden syndrome) or clinically suggestive features such as multiple hamartomas, macrocephaly, or early-onset breast, thyroid, or endometrial neoplasia. The clinician orders 81322 to perform a targeted laboratory assay that evaluates specifically for the familial PTEN variant rather than comprehensive sequencing.
Clinical workflow: the ordering clinician documents the family variant and obtains informed consent. A specimen (blood or saliva) is collected at an outpatient laboratory, specialty clinic, or hospital phlebotomy unit. The specimen is sent to a molecular genetics laboratory where a molecular analyst performs targeted testing to detect the specific familial PTEN mutation. Results are returned to the ordering clinician and genetic counselor for interpretation, cascade testing recommendations, and family counseling. Typical site of service: outpatient genetic testing laboratory with specimen collection at outpatient clinics, genetics centers, or hospital outpatient phlebotomy. Service type: targeted familial variant molecular diagnostic testing (technical laboratory service).
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 |