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).
Related CPT Codes
| CPT Code | Description | Relationship to This Procedure |
|---|
81162 | BRCA1 and BRCA2 gene analysis, targeted sequence analysis for known familial variants | Often ordered in parallel when a family history suggests hereditary breast and ovarian cancer syndrome; similar targeted familial variant testing workflow. |
81211 | EGFR (epidermal growth factor receptor) gene analysis, targeted variants | Example of another targeted familial or somatic variant assay; comparable laboratory processes for targeted mutation detection.
81217 | KRAS gene analysis, targeted variants | Commonly ordered targeted mutation assay in oncology; shares laboratory platforms and reporting practices with PTEN targeted testing.
0000F is not a standard CPT numeric code and therefore not listed per instructions.
81225 | RET gene analysis, targeted variants | Used in evaluation of familial medullary thyroid carcinoma syndromes; may be ordered in differential hereditary cancer evaluations where PTEN testing is also considered.
81479 | Unlisted molecular pathology procedure | Used when an unusual or novel targeted assay lacks a specific code; rarely used if 81322 does not precisely fit the test performed.
Note: If the laboratory performs full gene sequencing, other CPT codes for comprehensive PTEN analysis exist but are not listed here because 81322 describes targeted familial variant testing. When interpretation is billed separately, report appropriate professional component modifiers and link to relevant physician or genetic counseling services.