VHL Gene Sequencing & Del/Dup

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Presymptomatic diagnosis of VHL
  • To differentiate VHL from the other hereditary cancer syndromes: HLRCC, BHD, MEN2A, MEN2B and PGL/PCC
  • To determine an appropriate medical surveillance and treatment plan for VHL and CP
  • Risk assessment
  • Identification of at-risk family members
  • Prenatal diagnosis in families with a known mutation
  • Capillary Sequencing
  • Exon Array CGH


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)


81403x1, 81404x1
  • 194 Malignant neoplasm of other endocrine glands and related structures Excludes: islets of Langerhans (157.4) neuroendocrine tumors (209.00-209.69) ovary (183.0) testis (186.0-186.9) thymus (164.0)
  • 255.6 Medulloadrenal hyperfunction, Catecholamine secretion by pheochromocytoma
  • 215 Other benign neoplasm of connective and other soft tissue
  • 759.6 Other hamartoses, NEC Syndrome: Peutz-Jeghers Sturge-Weber (-Dimitri), von Hippel-Lindau
  • 289.8 Other specified diseases of blood and blood-forming organs
* For price inquiries please email zebras@genedx.com


  1. The Human Gene Mutation Database (HGMD), Institute of Medical Genetics in Cardiff, 2008. www.hgmd.cf.uk/ac/index.php
  2. Wong WT et al. Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. Arch Ophthalmol 2007;125(2):239-45
  3. 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
  4. Couch V et al. von Hippel-Lindau Disease. Review. Mayo Clin Proc 75:265-272, 2000
  5. Hoebeeck J et al. Rapid detection of VHL exon deletions using real-time quantitative PCR. Lab Invest 2005;85(1):24-33
  6. 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
  7. 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
  8. Mannelli M et al. Genetics and biology of pheochromocytoma. Exp Clin Endocrinol Diabetes 2007;115(3):160-5
  9. Kaelin WG, Jr. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2002;2(9):673-82
  10. Liu E et al., The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. Blood 2004;103(5):1937-40
  11. Pastore Y et al., Mutations of von Hippel-Lindau Tumor-Suppressor Gene and Congenital Polycythemia. Am J Hum Genet 73:412-419, 2003
  12. 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
  13. Maher ER et al., Phenotypic expression in von Hippel-Lindau Disease. J Med Genet 33:328-332, 1996