301-519-2100 • FAX 301-519-2892 • 207 PERRY PARKWAY GAITHERSBURG, MD 20877
SEARCH
Von Hippel Lindau Syndrome
VHL
Von Hippel Lindau syndrome (VHL) is a 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. The risk for pancreatic cysts and epididymal cystadenomas is also increased. All individuals with a mutation in the VHL gene are expected to develop symptoms by age 65; however, the clinical manifestations and severity are variable, even among individuals in the same family. VHL is an autosomal dominant disorder caused by heterozygous mutations in the VHL gene. Approximately 20% of cases are due to de novo mutations.
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.
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. Concurrently, 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.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
© 2000 - 2010 GeneDx. All rights reserved.
