Australian Government - Department of Health

Medical Services Advisory Committee (MSAC)

1153 - Genetic Testing for Hereditary Mutation of the von Hippel-Lindau (VHL) Gene

Assessment No

Application NameGenetic Testing for Hereditary Mutation of the von Hippel-Lindau (VHL) Gene
Description of InterventionThis diagnostic genetic test is for hereditary mutations in the VHL gene. Hereditary mutations in this gene cause von Hippel-Lindau syndrome. Genetic testing may be indicated in a patient with one or more features of the syndrome to make a diagnosis (diagnostic testing), or be used in unaffected relatives of a patient with a documented VHL mutation to determine the risk of disease (presymptomatic testing).
Description of DiseaseVon Hippel-Lindau syndrome is characterised by tumours of the brain, spinal cord, and retina; cysts and cancer of the kidney; tumours on the adrenal gland and in the middle ear.

VHL is the only gene known to be associated with von Hippel-Lindau syndrome. Molecular genetic testing of the VHL gene detects mutations in nearly 100% of individuals with typical features of von Hippel-Lindau syndrome. Von Hippel-Lindau syndrome is inherited in an autosomal dominant manner. Approximately 80% of individuals with the syndrome have an affected parent and about 20% have the syndrome as the result of a spontaneous gene mutation. The offspring of an individual with the syndrome are at a 50% risk of inheriting the VHL disease-causing mutation. Family members at risk of developing von Hippel-Lindau syndrome are offered surveillance and, as required, early intervention to reduce the risk or severity of this disorder.
Disease Group-
Disease Sub Group-
Intervention CategoryInvestigative
Intervention Type-
Intervention Sub Type-
Received27 October 2010
Stage 2 - Eligibility9 November 2010
Stage 3 - 1st PASC 17 February 2011
Stage 3 - Public CommentRelease for comment 24 February 2011
Close for comments 31 March 2011
Stage 3 - 2nd PASC13-14 April 2011
PDF version Final Decision Analytic Protocol (PDF 682 KB)
Word version Final Decision Analytic Protocol (Word 1101 KB)
Stage 4 - Submission of Evidence15 October 2011
Assessment Report (PDF 3452 KB)
Assessment Report (Word 2057 KB)
Stage 5 - ESC evaluation12-13 October 2011
Stage 6 - MSAC AppraisalMSAC appraised this assessment on 29 November 2011
PDF version Public Summary Document (PDF 105 KB)
Word version Public Summary Document (Word 228 KB)
Stage 6 - MSAC adviceAfter considering the strength of the available evidence in relation to the safety, effectiveness and cost-effectiveness of genetic testing to evaluate von Hippel-Lindau disease, MSAC supported public funding for listing three tests on the MBS, as follows:
  • Diagnostic test for heritable mutation in affected patient;
  • Predictive test for heritable mutation in relative of person with a heritable mutation; and
  • Diagnostic test for somatic mutations in patient with VHL syndrome and normal germline study.
Draft item descriptors:
Diagnostic test descriptor
Detection of germline mutations of the VHL gene in:
(i) patients with a clinical diagnosis of VHL syndrome: a family history of VHL syndrome and
  • a haemangioblastoma (retinal or CNS), phaeochromocytoma or renal cell carcinoma OR
  • two or more haemangioblastomas, or one haemangioblastoma and a tumour or cyst of the adrenal gland, kidney, pancreas, epididymis, and broad ligament (with the exception of epididymal and single renal cysts, which are frequent in the general population).
(ii) patients presenting with one or more clinical features suggestive of VHL syndrome:
  • haemangioblastomas of the brain, spinal cord,OR retina: OR phaeochromocytoma or functional extra-adrenal paraganglioma.
Predictive test descriptor
Detection of germline mutations of the VHL gene in:
(i) Biological relatives of patients with a known mutation in the VHL gene
Somatic test descriptor
Detection of somatic mutations of the VHL gene in two or more tumours from patients with:
(i) two or more haemangioblastomas, or one haemangioblastoma and a tumour of the adrenal gland, kidney, pancreas, or epididymis; and
(ii) no germline mutation of the VHL gene identified by genetic testing.
Stage 7 - Noting by Minister
  • advice is not communicated to the Minister until the Minutes of the relevant meeting have been ratified by MSAC members (which may take several weeks)
  • the Minister needs time to properly consider MSAC's advice (and may choose to seek further policy advice from the department before noting the advice)
  • a Government decision to list a service supported by MSAC is taken in the context of other Government priorities: MSAC's support of an application for public funding does not oblige the Government to list the service on the MBS
The Minister noted MSAC's advice 12 June 2012.
Stage 8 - ImplementationImplemented onto the MBS on 1/11/12
MBS Items: 73333, 73334 and 73335 for the testing of von Hippel-Lindau gene mutation

Page currency, Latest update: 03 August, 2015