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

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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).

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.

• PASC meeting: 
  • 17 February 2011
• ESC meeting: 
  • 12 - 13 October 2011
• MSAC meeting: 
  • 29 November 2011
  • 23 November 2017