Highmark Commercial Medical Policy - Pennsylvania

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Medical Policy: L-172-005
Topic: Familial Adenomatous Polyposis Testing
Section: Laboratory
Effective Date: November 13, 2017
Issue Date: November 13, 2017
Last Reviewed: June 2017

Familial Adenomatous Polyposis Testing (FAP) is an inherited colorectal cancer syndrome that accounts for up to 1 in 200 colorectal cancers. FAP is clinically diagnosed when a person has 100 or more colorectal adenomatous polyps or fewer than 100 polyps and a family member with FAP. Polyposis typically begins before age 40. Virtually all people with classic FAP will develop colorectal cancer without intervention.  Attenuated FAP (AFAP) is a milder form characterized by the presence of 10-99 polyps. Colon cancer generally presents at a later age than classic FAP. Individuals with 100 or more polyps occurring at later ages (35 to 40 years or older) may be found to have AFAP. A personal history of colorectal cancer before age 60 (without polyposis) and a family history of multiple adenomatous polyps Familial Adenomatous Polyposis may also be seen with AFAP. Currently, there is no consensus regarding precise diagnostic criteria for AFAP.

APC sequence analysis is used to identify disease-causing mutations in those clinically diagnosed with FAP/AFAP. Testing may be considered for close relatives of someone with FAP when an affected relative is unavailable for testing.

This policy is designed to address medical guidelines that are appropriate for the majority of individuals with a particular disease, illness, or condition. Each person's unique clinical circumstances may warrant individual consideration, based on review of applicable medical records.

Policy Position Coverage is subject to the specific terms of the member’s benefit plan.

APC Known Familial Mutation Analysis may be considered medically necessary when:

  • Genetic Counseling:
    • Pre and post-test genetic counseling by an appropriate provider; and
  • Previous Genetic Testing:
    • No previous genetic APC mutation testing; and
  • Diagnostic or Predisposition Testing:
    • Family History:
      • Known family mutation in APC identified in 1st degree relative(s). (Note: 2nd or 3rd degree relatives may be considered when 1st degree relatives are unavailable or unwilling to be tested).

APC Sequencing may be considered medically necessary when:

  • Genetic Counseling:
    • Pre and post-test genetic counseling by an appropriate provider; and
  • Previous Genetic Testing:
    • No previous APC mutation testing; and
    • No known familial mutation; and
  • Diagnostic Testing for Symptomatic Individuals
    • Personal history
      • More than 10 cumulative adenomas (known or suspected diagnosis of FAP – 100 or more adenomas or AFAP – 10 to 100 adenomas); or
      • A desmoid tumor, hepatoblastoma, or cribriform-morular variant of papillary thyroid cancer, or multifocal/bilateral CHRPE; or
  • Predisposition Testing for Presymptomatic/Asymptomatic Individuals:
    • Family history:
      • First degree relative of an individual with a diagnosis of FAP or AFAP. (Note: Whenever possible, an affected family member should be tested first).

APC Duplication/Deletion Analysis may be considered medically necessary when:

  • Genetic Counseling:
    • Pre and post-test genetic counseling by an appropriate provider; and
  • Previous Genetic Testing:
    • No previous large rearrangement testing; and
    • Previous APC sequencing performed and no mutations found; and
    • No known familial mutation.
Procedure Codes
81201, 81202, 81203

Professional Statements and Societal Positions

Consensus guidelines from the American Gastroenterological Association (AGA, 2001) recommend:

  • APC gene testing in individuals age 10 or older to confirm the diagnosis of FAP or AFAP, or to provide presymptomatic screening in individuals age 10 or older with a first-degree relative with FAP or AFAP.
  • First testing an affected family member to establish if a detectable mutation is present in the family.

Evidence- and consensus-based guidelines from the National Comprehensive Cancer Network (NCCN, 2016) state:

  • "APC genetic testing is recommended in a proband to confirm a diagnosis of FAP and allow for mutation specific testing in family members. Additionally knowing the location of the mutation in the APC gene can be helpful for predicting severity of polyposis, rectal involvement and desmoid tumors."
  • When the family mutation is known, APC gene testing is recommended for at-risk family members (defined as first-degree relatives or more distant relatives if closer relatives are unavailable or unwilling to be tested).
  • When the family mutation is not known, APC gene testing may be considered for first-degree relatives when an affected family member is not available or not willing to test first.
  • These recommendations are Category 2A, defined as "lower-level evidence with uniform NCCN consensus."

Evidence-based guidelines from the American College of Gastroenterology (ACG, 2009) recommend:

  • "Patients with classic FAP (greater than 100 adenomas) should be advised to pursue genetic counseling and genetic testing, if they have siblings or children who could potentially benefit from this testing". [Grade 2B: "weak recommendation, moderate-quality evidence"].

The American College of Gastroenterology (ACG, 2015) clinical guidelines state that “Individuals who have a personal history of greater than 10 cumulative colorectal adenomas, a family history of one of the adenomatous polyposis syndromes, or a history of adenomas and FAP-type extracolonic manifestations (duodenal/ampullary adenomas, desmoid tumors, papillary thyroid cancer, congenital hypertrophy of the retinal pigment epithelium, epidermal cysts, osteomas) should undergo assessment for the adenomatous polyposis syndrome.”

Note that NCCN excluded I1307K variant testing from the guideline "because there is very little evidence to date indicating what kind of screening should be offered to individuals with this mutation.”

Place of Service: Outpatient

FAP testing is typically an outpatient procedure which is only eligible for coverage as an inpatient procedure in special circumstances, including, but not limited to, the presence of a co-morbid condition that would require monitoring in a more controlled environment such as the inpatient setting.

The policy position applies to all commercial lines of business

Denial Statements

Services that do not meet the criteria of this policy will not be considered medically necessary. A network provider cannot bill the member for the denied service unless: (a) the provider has given advance written notice, informing the member that the service may be deemed not medically necessary; (b) the member is provided with an estimate of the cost; and (c) the member agrees in writing to assume financial responsibility in advance of receiving the service. The signed agreement must be maintained in the provider’s records.


Medical policies do not constitute medical advice, nor are they intended to govern the practice of medicine. They are intended to reflect Highmark's reimbursement and coverage guidelines. Coverage for services may vary for individual members, based on the terms of the benefit contract.

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    • Qualified sign language interpreters
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If you need these services, contact the Civil Rights Coordinator.

If you believe that the Claims Administrator/Insurer has failed to provide these services or discriminated in another way on the basis of race, color, national origin, age, disability, or sex, you can file a grievance with: Civil Rights Coordinator, P.O. Box 22492, Pittsburgh, PA 15222, Phone: 1-866-286-8295, TTY: 711, Fax: 412-544-2475, email: CivilRightsCoordinator@highmarkhealth.org. You can file a grievance in person or by mail, fax, or email. If you need help filing a grievance, the Civil Rights Coordinator is available to help you.

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U.S. Department of Health and Human Services
200 Independence Avenue, SW
Room 509F, HHH Building
Washington, D.C. 20201
1-800-368-1019, 800-537-7697 (TDD)

Complaint forms are available at http://www.hhs.gov/ocr/office/file/index.html.

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