Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

VHL Gene Sequencing & Del/Dup



Clinical Utility:
  • 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
Lab Method:
Capillary Sequencing, Exon Array CGH


Test Code:
Turnaround Time:
3 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
81403x1, 81404x1
New York Approved:
ABN Required:
Billing Information:
View Oncology Billing Policy
ICD Codes:
  • 194: Adrenal gland, Adrenal cortex, Adrenal medulla, Suprarenal gland
  • 215: Other benign neoplasm of connective and other soft tissue
  • 759.6: Other hamartoses, NEC Syndrome: Peutz-Jeghers Sturge-Weber (-Dimitri), von Hippel-Lindau
  • 255.6: Medulloadrenal hyperfunction, Catecholamine secretion by pheochromocytoma
  • 289.8: Other specified diseases of blood and blood-forming organs
* For price inquiries please email


  1. The Human Gene Mutation Database (HGMD), Institute of Medical Genetics in Cardiff, 2008.
  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

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