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Official Description

PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; full sequence analysis

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

The CPT® Code 81321 refers to the full sequence analysis of the PTEN (phosphatase and tensin homolog) gene, which is crucial for identifying mutations associated with PTEN hamartoma tumor syndrome, commonly known as Cowden syndrome. This molecular genetic testing is essential for diagnosing individuals who may be predisposed to developing various tumors due to inherited mutations in the PTEN gene, located on chromosome 10. Cowden syndrome is characterized as an autosomal dominant condition, meaning that an individual only needs to inherit one mutated copy of the PTEN gene from a parent to manifest the disease. The PTEN gene encodes a protein that functions as a tumor suppressor, playing a vital role in regulating cell division, migration, and adhesion, as well as the formation of new blood vessels. Mutations in the PTEN gene can lead to a range of effects, from minor changes in the DNA sequence to significant deletions, which may result in a defective enzyme that fails to perform its tumor-suppressing functions effectively. This can lead to the development of multiple non-malignant tumors, which have a heightened risk of becoming cancerous, particularly in the breast, thyroid, and endometrial tissues. The full sequence analysis provided by CPT® Code 81321 is critical for understanding the genetic basis of this syndrome and guiding further clinical management and surveillance for affected individuals.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The full sequence analysis of the PTEN gene, as indicated by CPT® Code 81321, is performed for the following conditions:

  • Cowden syndrome - An inherited condition characterized by multiple non-malignant tumors and a predisposition to certain cancers.
  • PTEN hamartoma tumor syndrome - A syndrome associated with mutations in the PTEN gene that can lead to various tumor types.

2. Procedure

The procedure for conducting a full sequence analysis of the PTEN gene involves several critical steps:

  • Sample Collection - A biological sample, typically blood or saliva, is collected from the patient to obtain DNA for analysis.
  • DNA Extraction - The DNA is extracted from the collected sample using standardized laboratory techniques to ensure purity and integrity for testing.
  • Sequencing - The extracted DNA undergoes sequencing to identify the complete nucleotide sequence of the PTEN gene. This step is crucial for detecting any mutations or variations present in the gene.
  • Data Analysis - The sequenced data is analyzed using bioinformatics tools to compare the patient's PTEN gene sequence against a reference sequence, identifying any mutations or alterations.
  • Reporting - The results of the analysis are compiled into a report that details any identified mutations, their potential implications for the patient, and recommendations for further clinical management.

3. Post-Procedure

After the full sequence analysis of the PTEN gene is completed, patients may receive genetic counseling to discuss the results and their implications. This counseling is essential for understanding the risk of developing associated conditions and for making informed decisions regarding surveillance and preventive measures. Additionally, healthcare providers may recommend follow-up testing or screening based on the findings, particularly if mutations associated with increased cancer risk are identified. Patients should also be informed about the potential for familial implications, as the results may affect family members who may also be at risk for inheriting the PTEN mutation.

Short Descr PTEN GENE FULL SEQUENCE
Medium Descr PTEN GENE ANALYSIS FULL SEQUENCE ANALYSIS
Long Descr PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; full sequence analysis
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
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.
XU Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
GA Waiver of liability statement issued as required by payer policy, individual case
GW Service not related to the hospice patient's terminal condition
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.
91 Repeat clinical diagnostic laboratory test: in the course of treatment of the patient, it may be necessary to repeat the same laboratory test on the same day to obtain subsequent (multiple) test results. under these circumstances, the laboratory test performed can be identified by its usual procedure number and the addition of modifier 91. note: this modifier may not be used when tests are rerun to confirm initial results; due to testing problems with specimens or equipment; or for any other reason when a normal, one-time, reportable result is all that is required. this modifier may not be used when other code(s) describe a series of test results (eg, glucose tolerance tests, evocative/suppression testing). this modifier may only be used for laboratory test(s) performed more than once on the same day on the same patient.
GV Attending physician not employed or paid under arrangement by the patient's hospice provider
GZ Item or service expected to be denied as not reasonable and necessary
XS Separate structure, a service that is distinct because it was performed on a separate organ/structure
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2013-01-01 Added Added
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