Background:
von Hippel-Lindau (VHL) disease is a rare autosomal-dominant cancer syndrome caused by mutations in the VHL gene. This disease is most commonly characterized by hemangioblastomas of the brain, spinal cord and retina; pheochromocytomas and renal cell carcinomas. Point mutations and small insertions/deletions account for approximately 72%, while entire exon and gene deletions account for approximately 28% of the identified mutations. In addition to VHL, mutations in the VHL gene also cause VHL-associated polycythemia (previously known as Chuvash type polycythemia).
Reasons for Referral:
- Identification of inherited genetic defects in the VHL gene in patients with a clinical diagnosis of VHL disease or VHL-associated polycythemia.
- Confirmation of a suspected diagnosis with a positive family history of VHL disease when a familial mutation is known.
- Predispositional testing for asymptomatic family members with a positive family history of VHL.
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed if clinically indicated.
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References:
- Maher ER et al. von Hippel-Lindau disease: A clinical and scientific review. European Journal of Human Genetics 2011;19:617-623.
- Banks R et al. Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res 2006;66:2000-2011.
- Stolle C et al. Improved detection of germline mutations in the von Hippel-Lindau tumor suppressor gene. Human Mutation 1998;12:417-423.
Additional Info: