Chuvash Type Polycythemia

Chuvash-type polycythemia (CP) is a rare congenital disorder characterized by elevated hemoglobin, elevated serum erythropoietin (Epo), elevated serum concentration of vascular endothelial growth factor, low blood pressure, vertebral hemangiomas, varicose veins, and early death secondary to cerebral vascular events or peripheral thrombosis. Although CP is caused by mutations in the VHL gene, which also causes von Hippel-Lindau syndrome, predisposition to cancer is not associated with the CP phenotype.

Tests Available

Forms and Documents

Test Details

VHL
  • 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

Ordering

413
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81404x1
No
Yes
  • 289.6 Familial polycythemia, Familial: benign polycythemia erythrocytosis
  • 289 Other diseases of blood and blood-forming organs
  • 289.8 Other specified diseases of blood and blood-forming organs
  • 238.4 Polycythemia vera
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References

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