Genetic testing for hereditary mutations in the VHL gene that cause von Hippel-Lindau syndrome

Morona JK, Newton S, Wang S, Tamblyn D, Ellery B, Merlin T
Record ID 32012000793
Original Title: Application 1153
Authors' recommendations: There were no data available to determine the direct health impact of including genetic testing as part of the current diagnostic strategy for patients suspected of VHL syndrome and their relatives. However, by linking evidence on the accuracy of VHL testing in individuals with change in management data, it is clear that most of the benefits from testing will accrue from reducing the need to monitor for VHL-associated neoplasms in asymptomatic family members who test negative for the mutation.
Project Status: Completed
Year Published: 2012
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Australia
MeSH Terms
  • Humans
  • von Hippel-Lindau Disease
  • Genetic Predisposition to Disease
  • Genome, Human
Organisation Name: Adelaide Health Technology Assessment
Contact Address: School of Public Health, Mail Drop 545, University of Adelaide, Adelaide SA 5005, AUSTRALIA, Tel: +61 8 8313 4617
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Copyright: Adelaide Health Technology Assessment (AHTA)
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