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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.
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
- A positive family history of VHL; and
- 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).
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.
| Professional Statements and Societal Positions |
Consensus-based clinical diagnostic guidelines state that the diagnosis of VHL can be made in the following circumstances:
A 2012 expert-authored review recommends the following testing strategy to confirm/establish the diagnosis in an affected individual:
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."
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| 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.
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