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Von Hippel Lindau Syndrome

  • VHL
  • Chuvash-type Polycythemia
Von Hippel Lindau syndrome (VHL) is an autosomal dominant hereditary cancer predisposition syndrome characterized by an increased risk for retinal and central nervous system hemangioblastomas, renal cysts and carcinomas, pheochromocytomas, and endolymphatic sac tumors. An estimated 72% of patients with VHL have mutations that are identifiable by bi-directional sequence analysis. The remaining ~28% of patients have partial or complete deletions of the VHL gene. Therefore, the comprehensive testing strategy used by GeneDx is expected to identify a mutation in almost all individuals with a clinical diagnosis of VHL.

Chuvash-type polycythemia (CP) is an autosomal recessive disorder also caused by mutations in the VHL gene. A founder mutation (R200W) is commonly seen in individuals of the Chuvash Republic of the Russian Federation; however, causative mutations have been noted throughout the VHL gene. Cancer is not associated with the CP phenotype. Mutations in the VHL gene have been detected in 17% and 50% of probands with congenital erythrocytosis suspected of having CP. Deletions in the VHL gene have not been noted in individuals with CP.

Using genomic DNA obtained from blood (1-5 mL in EDTA), bi-directional sequencing of the coding regions (exons 1-3) and splice sites of the VHL gene is performed in individuals suspected of having VHL syndrome or CP. For individuals suspected of having VHL syndrome, concurrent, targeted array CGH analysis with exon-level resolution (ExonArrayDx) is performed to evaluate for a deletion or duplication of one or more exons of this gene. Mutation-specific testing in family members and prenatal diagnosis in at-risk pregnancies is available once a mutation has been identified.

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