© Copyright 2025 American Medical Association. All rights reserved.
The CPT® Code 81323 pertains to the molecular genetic testing of the PTEN (phosphatase and tensin homolog) gene, specifically focusing on the identification of duplication or deletion variants. This testing is crucial for diagnosing PTEN hamartoma tumor syndrome, commonly known as Cowden syndrome, which is an autosomal dominant inherited condition. Individuals who inherit a mutated PTEN gene from one parent are at risk of developing this syndrome. The PTEN gene, located on chromosome 10, encodes a protein that functions as a tumor suppressor, playing a vital role in regulating cell division and maintaining cellular integrity. The PTEN enzyme modifies proteins and lipids by removing phosphate groups, which is essential for controlling cell migration, adhesion to surrounding tissues, and the formation of new blood vessels. Cowden syndrome is characterized by the presence of multiple non-malignant tumors that have a predisposition to become cancerous, particularly in the breast, thyroid, and endometrial tissues. There are over 130 documented mutations of the PTEN gene that can lead to this syndrome, with variations that may involve minor changes in DNA building blocks or significant deletions. The resulting alterations in the PTEN enzyme can lead to defective functionality or complete absence, contributing to tumorigenesis. For comprehensive genetic analysis, full sequence PTEN gene analysis is reported under CPT® Code 81321, while testing for known familial variants is reported with CPT® Code 81322. Notably, three familial variants associated with aggressive breast cancer have been identified, which include -903GA, -975GC, and -1026CA, all linked to poor treatment outcomes. The specific focus of CPT® Code 81323 is on the detection of duplication and deletion variants within the PTEN gene, which is essential for understanding the genetic basis of Cowden syndrome and guiding patient management.
© Copyright 2025 Coding Ahead. All rights reserved.
The molecular genetic testing for PTEN gene analysis, specifically CPT® Code 81323, is indicated for the following conditions:
The procedure for CPT® Code 81323 involves several key steps to accurately identify duplication or deletion variants in the PTEN gene:
After the completion of the PTEN gene analysis under CPT® Code 81323, patients may require follow-up consultations to discuss the results and their implications. It is essential for healthcare providers to review the findings with the patient, particularly if any duplication or deletion variants are identified. This discussion may include recommendations for surveillance for associated cancers, potential preventive measures, and genetic counseling for family members. Additionally, patients may be advised on lifestyle modifications and monitoring strategies to manage their health proactively. The overall recovery from the procedure is typically uneventful, as it primarily involves laboratory analysis rather than invasive interventions.
| Short Descr | PTEN GENE DUP/DELET VARIANT | Medium Descr | PTEN GENE ANALYSIS DUPLICATION/DELETION VARIANT | Long Descr | PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; duplication/deletion variant | Status Code | Statutory Exclusion (from MPFS, may be paid under other methodologies) | Global Days | XXX - Global Concept Does Not Apply | PC/TC Indicator (26, TC) | 9 - Not Applicable | Multiple Procedures (51) | 9 - Concept does not apply. | Bilateral Surgery (50) | 9 - Concept does not apply. | Physician Supervisions | 09 - Concept does not apply. | Assistant Surgeon (80, 82) | 9 - Concept does not apply. | Co-Surgeons (62) | 9 - Concept does not apply. | Team Surgery (66) | 9 - Concept does not apply. | Diagnostic Imaging Family | 99 - Concept Does Not Apply | CLIA Waived (QW) | No | APC Status Indicator | Service Paid under Fee Schedule or Payment System other than OPPS | Type of Service (TOS) | 5 - Diagnostic Laboratory | Berenson-Eggers TOS (BETOS) | T1H - Lab tests - other (non-Medicare fee schedule) | MUE | 1 | CCS Clinical Classification | 234 - Pathology |
| XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | 90 | Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number. | GZ | Item or service expected to be denied as not reasonable and necessary | GA | Waiver of liability statement issued as required by payer policy, individual case | 59 | Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25. | GW | Service not related to the hospice patient's terminal condition |
|
Date
|
Action
|
Notes
|
|---|---|---|
| 2013-01-01 | Added | Added |
Get instant expert-level medical coding assistance.