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Official Description

APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; known familial variants

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

The CPT® Code 81202 pertains to the molecular genetic testing of the adenomatous polyposis coli (APC) gene, specifically focusing on known familial variants. This testing is crucial for individuals who may be at risk for familial adenomatosis polyposis (FAP), a hereditary condition characterized by the development of numerous polyps in the colon and rectum, which can lead to colorectal cancer if not monitored and managed appropriately. FAP is inherited in an autosomal dominant manner, meaning that a single mutated copy of the APC gene inherited from one parent is sufficient to cause the disease. The classic form of FAP is typically more severe than its attenuated counterpart, with the former leading to a higher number of polyps and an earlier onset of colorectal cancer. The APC gene plays a vital role as a tumor suppressor, and mutations in this gene disrupt its function, resulting in uncontrolled cell growth and polyp formation. The gene is located on chromosome 5, and over 700 distinct mutations have been identified, many of which result in a truncated, nonfunctional APC protein. Testing for known familial variants, as indicated by CPT® Code 81202, is essential for identifying specific mutations that may have been passed down through families, including those associated with conditions such as Turcot syndrome and the I1307K variant prevalent in the Ashkenazi Jewish population, both of which are linked to an increased risk of colorectal cancer.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The molecular genetic testing for the APC gene, as indicated by CPT® Code 81202, is performed for individuals who have a family history of adenomatous polyposis coli (APC) mutations. This testing is particularly relevant for:

  • Familial Adenomatous Polyposis (FAP) Individuals with a known family history of FAP, which is characterized by the development of numerous colorectal polyps.
  • Attenuated FAP Individuals who may present with a milder form of the disease, which still carries a risk of colorectal cancer.
  • Known Familial Variants Individuals who are being tested for specific mutations that have been previously identified in family members, which may indicate an increased risk for colorectal cancer.

2. Procedure

The procedure for testing the APC gene for known familial variants involves several key steps:

  • Sample Collection A biological sample, typically blood or saliva, is collected from the individual undergoing testing. This sample contains the DNA necessary for analysis.
  • DNA Extraction The DNA is extracted from the collected sample using laboratory techniques that isolate the genetic material for further analysis.
  • Mutation Analysis The extracted DNA is then analyzed for specific known mutations in the APC gene. This may involve techniques such as polymerase chain reaction (PCR) and sequencing to identify any familial variants that are present.
  • Reporting Results Once the analysis is complete, the results are compiled into a report that details the presence or absence of known familial variants in the APC gene. This report is then provided to the healthcare provider for further interpretation and discussion with the patient.

3. Post-Procedure

After the APC gene testing is completed, patients may receive counseling regarding the implications of the test results. If a known familial variant is identified, healthcare providers may recommend increased surveillance for colorectal cancer, including regular colonoscopies, to monitor for the development of polyps. Additionally, family members may also be advised to undergo genetic testing to determine their risk of carrying the same mutation. It is important for patients to discuss the results with their healthcare provider to understand the potential impact on their health and the health of their relatives.

Short Descr APC GENE KNOWN FAM VARIANTS
Medium Descr APC GENE ANALYSIS KNOWN FAMILIAL VARIANTS
Long Descr APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; known familial variants
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) T2D - Other tests - other
MUE 1
CCS Clinical Classification 234 - Pathology
Date
Action
Notes
2013-01-01 Added Added
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