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

Page last updated: 13 July 2016

Application Detail



Description of Medical Service

This 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 Medical Condition

Von 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.

Reason for Application


Medical Service Type


Previous Application Number

Not Applicable

Associated Documentation

Application Form


PICO Confirmation

13 - 14 April 2011
Final Decision Analytic Protocol (PDF 682 KB)
Final Decision Analytic Protocol (Word 1101 KB)

Assessment Report

15 October 2011
Assessment Report (PDF 3452 KB)
Assessment Report (Word 2057 KB)

Public Summary Document

MSAC appraised this assessment on 29 November 2011
Public Summary Document (PDF 105 KB)
Public Summary Document (Word 228 KB)

Meetings for this Application


17 February 2011


12 - 13 October 2011


29 November 2011