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Diseases

Genetic and Rare Diseases Information Center (GARD)

Von Hippel-Lindau disease


Other Names for this Disease
  • VHL syndrome
  • VHL
  • Von Hippel-Lindau disease
  • Von Hippel-Lindau syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is von Hippel-Lindau (VHL) disease diagnosed?

The diagnosis of von Hippel-Lindau (VHL) disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a mutation in the VHL gene.

Tests that may be used to establish a clinical diagnosis include:
Last updated: 2/2/2016

References
  1. Carlijn Frantzen, Timothy D Klasson, Thera P Links, and Rachel H Giles. Von Hippel-Lindau Syndrome. GeneReviews. August 6, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1463/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • VHL syndrome
  • VHL
  • Von Hippel-Lindau disease
  • Von Hippel-Lindau syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.