Highmark Commercial Medical Policy - Pennsylvania

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Medical Policy: L-168-004
Topic: Von Hippel-Lindau Disease Testing
Section: Laboratory
Effective Date: November 13, 2017
Issue Date: November 13, 2017
Last Reviewed: June 2017

Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome whose main clinical features include hemangioblastomas of the central nervous system (CNS) and retina, renal cysts and renal cell carcinoma, pheochromocytoma, and endolymphatic sac tumors.

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.

VHL Known Familial Mutation Analysis may be considered medically necessary when the following criteria are met:

  • Genetic Counseling:
    • Pre and post-test genetic counseling; and
  • Previous Testing:
    • No previous VHL gene testing that would have detected the family mutation; and
  • Diagnostic and Predisposition Testing*:
    • Known family mutation in VHL 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.)

* Includes prenatal testing for at-risk pregnancies.

Procedure Codes

VHL Sequencing may be considered medically necessary when the following criteria are met:

  • Genetic Counseling:
    •   Pre and post-test genetic counseling; and
  • Previous Testing:
    • No previous VHL gene sequencing; and
    • No known familial mutation; and
  • Diagnostic Testing for Symptomatic Individuals: 
    • A positive family history of VHL; and
      • Spinal or cerebellar hemangioblastoma; or
      • Retinal hemangioblastoma; or
      • Renal cell carcinoma; or
      • Pheochromocytoma; or
      • Multiple renal and/or pancreatic cysts; or
    • No known family history of VHL-related findings; and
      • Two or more hemangioblastomas involving the retina, spine, and/or brain; or
      • A single hemangioblastoma and a characteristic visceral mass (such as renal cell carcinoma, pheochromocytoma, endolymphatic sac tumors, papillary cystadenomas of the epididymis or broad ligament, or neuroendocrine tumors of the pancreas); or
  • Predisposition Testing for Presymptomatic/Asymptomatic Individuals: 
    • A first-degree relative of someone with a clinical diagnosis of VHL who has had no previous genetic testing (Note that testing in the setting of a more distant affected relative will only be considered if the first-degree relative is unavailable or unwilling to be tested).
Procedure Codes
S3842, 81404

VHL Deletion/Duplication Analysis may be considered medically necessary when the following criteria are met:

  • Genetic Counseling:
    •   Pre and post-test genetic counseling; and
  • Previous Genetic Testing:
    • There is no known familial mutation; and
    • No previous deletion/duplication analysis of the VHL gene has been performed; and
    • Above criteria for VHL full gene sequence analysis are met; and
    • VHL sequencing was previously performed and no mutations were found.
Procedure Codes

Professional Statements and Societal Positions

Consensus-based clinical diagnostic guidelines state that the diagnosis of VHL can be made in the following circumstances:

  • "Patients with a family history, and a CNS haemangioblastoma (including retinal haemangioblastomas), phaeochromocytoma, or clear cell renal carcinoma are diagnosed with the disease."
  • "Those with no relevant family history must have two or more CNS haemangioblastomas, or one CNS haemangioblastoma and a visceral tumour (with the exception of epididymal and renal cysts, which are frequent in the general population) to meet the diagnostic criteria."

A 2012 expert-authored review recommends the following testing strategy to confirm/establish the diagnosis in an affected individual:

  • "Genetic testing is indicated in all individuals known to have or suspected of having VHL syndrome."
  • "For individuals with manifestations of VHL syndrome who do not meet strict diagnostic criteria and who do not have a detectable VHL germline mutation, somatic mosaicism for a de novo VHL disease-causing mutation should be considered. In some instances, genetic testing of the offspring of such individuals reveals a VHL mutation."
  • The high sensitivity of the molecular test for VHL make confirming a diagnosis relatively straightforward in individuals who may have features of VHL but may not meet diagnostic criteria.

A 2012 expert-authored review states: "Use of molecular genetic testing for early identification of at-risk family members improves diagnostic certainty and reduces the need for screening procedures in those at-risk family members who have not inherited the disease-causing mutation."

The American Society of Clinical Oncologists (ASCO) position statement on genetic testing (originally published 1996; revised/affirmed in 2003 and 2010) considers VHL syndrome a Group 1 disorder: "Tests for families with well-defined hereditary syndromes for either a positive or negative result will change medical or prenatal management, and for whom genetic testing may be utilized as part of the routine medical care."

  • The 2003 update specifically addresses issues around genetic testing in affected and at-risk children:
    • "ASCO recommends that the decision to offer testing to potentially affected children should take into account the availability of evidence-based risk-reduction strategies and the probability of developing a malignancy during childhood. Where risk-reduction strategies are available or cancer predominantly develops in childhood, ASCO believes that the scope of parental authority encompasses the right to decide for or against testing."

Place of Service: Outpatient

VHL 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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The Claims Administrator/Insurer complies with applicable Federal civil rights laws and does not discriminate on the basis of race, color, national origin, age, disability, or sex. The Claims Administrator/Insurer does not exclude people or treat them differently because of race, color, national origin, age, disability, or sex. The Claims Administrator/ Insurer:
  • Provides free aids and services to people with disabilities to communicate effectively with us, such as:
    • Qualified sign language interpreters
    • Written information in other formats (large print, audio, accessible electronic formats, other formats)
  • Provides free language services to people whose primary language is not English, such as:
    • Qualified interpreters
    • Information written in other languages
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.

You can also file a civil rights complaint with the U.S. Department of Health and Human Services, Office for Civil Rights electronically through the Office for Civil Rights Complaint Portal, available at https://ocrportal.hhs.gov/ocr/portal/lobby.jsf, or by mail or phone at:

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.

Insurance or benefit/claims administration may be provided by Highmark, Highmark Choice Company, Highmark Coverage Advantage, Highmark Health Insurance Company, First Priority Life Insurance Company, First Priority Health, Highmark Benefits Group, Highmark Select Resources, Highmark Senior Solutions Company or Highmark Senior Health Company, all of which are independent licensees of the Blue Cross and Blue Shield Association, an association of independent Blue Cross and Blue Shield plans.

Highmark retains the right to review and update its medical policy guidelines at its sole discretion. These guidelines are the proprietary information of Highmark. Any sale, copying or dissemination of the medical policies is prohibited; however, limited copying of medical policies is permitted for individual use.

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