Molecular Genetics von Hippel-Lindau (VHL) Disease, VHL, Sequencing

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.

1. Maher ER et al. von Hippel-Lindau disease: A clinical and scientific review. European Journal of Human Genetics 2011;19:617-623.
2. 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.
3. Stolle C et al. Improved detection of germline mutations in the von Hippel-Lindau tumor suppressor gene. Human Mutation 1998;12:417-423.