Forms and Documents
- An individual with a personal history and family history of tumors or other clinical features associated with Von Hippel-Lindau (VHL), such as Hemangioblastomas of the spine, brain or retina; renal and/or pancreatic cysts; renal cell carcinoma; pheochromocytomas; pancreatic neuroendocrine tumors; epididymal cystadenomas; endolymphatic sac tumors.
- An individual with early-onset renal cell carcinoma OR renal cancer at any age and a personal or family history of any other features associated with VHL
- An individual with multiple hemangioblastomas of spine, brain, or retina OR a single hemangioblastoma and a personal or family history of other features associated with VHL
- An individual with a pheochromocytoma, especially if young and/or bilateral.
- An individual with a multiple renal and pancreatic cysts and a family history of other features associated with VHL
- An unaffected individual with a family history suggestive of VHL (see above) when an affected individual is unavailable for his or her own genetic testing
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- The Human Gene Mutation Database (HGMD), Institute of Medical Genetics in Cardiff, 2008. www.hgmd.cf.uk/ac/index.php
- Wong WT et al. Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. Arch Ophthalmol 2007;125(2):239-45
- Shehata BM et al., Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects. Adv Anat Pathol 2008;15(3):165-71
- Couch V et al. von Hippel-Lindau Disease. Review. Mayo Clin Proc 75:265-272, 2000
- Hoebeeck J et al. Rapid detection of VHL exon deletions using real-time quantitative PCR. Lab Invest 2005;85(1):24-33
- Stolle C et al., Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat 1998;12(6):417-23
- Bento M et al., Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. Haematologica 90:128-129, 2005
- Mannelli M et al. Genetics and biology of pheochromocytoma. Exp Clin Endocrinol Diabetes 2007;115(3):160-5
- Kaelin WG, Jr. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2002;2(9):673-82
- Liu E et al., The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. Blood 2004;103(5):1937-40
- Pastore Y et al., Mutations of von Hippel-Lindau Tumor-Suppressor Gene and Congenital Polycythemia. Am J Hum Genet 73:412-419, 2003
- Cario H et al., Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis. Haematologica 90(1): 19-24, 2005
- Maher ER et al., Phenotypic expression in von Hippel-Lindau Disease. J Med Genet 33:328-332, 1996