Von Hippel-Lindau syndrome Sequencing

Von Hippel–Lindau (VHL) is a rare, autosomal dominant genetic condition in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina. The disease is caused by mutations of the von Hippel–Lindau tumor suppressor (VHL) gene on the short arm of chromosome 3 (3p25-26).

Von Hippel–Lindau disease is inherited in an autosomal dominant pattern. As long as one copy of the VHL gene is producing functional VHL protein in each cell, tumors do not form. Since both alleles need to be mutated in order for the disorder to develop, the second allele must develop the mutation in at least one other cell in their bodies. If a mutation occurs in the second copy of the VHL gene, the cell will have no working copies of the gene and will produce no functional VHL protein. A lack of this protein allows tumors to develop.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 code 759.6

Test Requisition: Sequencing Requisition

CPT Codes: 81404 Cost: $333.00

Turn-around-time: 3-4 weeks