VHL Gene Mutation 3 Exons by Sequencing Test

Von Hippel- Lindau Syndrome (VHL) is a hereditary condition. It causes tumors in multiple organs. These include tumors in blood vessels, spinal cord, kidneys, pancreas and adrenal glands. A characteristic is also eye cancer and brain cancer. Multiple cysts are also observed. This condition arises from a mutation in a gene sequence called VHL. To detect the condition, a patient's DNA is sequenced to analyze and find mutations in the VHL sequence.

No special preparation is needed. Inform the doctor of any medications being taken by the patient. It is recommended that the patient wear a short sleeved shirt.

If mutations are observed in the VHL sequence, the patient is positive for Von Hippel Lindau Syndrome. If mutations are not observed in the VHL sequence, the patient is negative for Von Hippel Lindau Syndrome.

The blood sample will be obtained from a vein in the patient's arm. The site will be cleaned with an alcohol swab. A sterile needle will be inserted into the patient's arm. About 2-3ml blood will be drawn. The site will be cleaned with a cotton swab. The blood sample is then run through a PCR machine to sequence the DNA. The DNA is then analyzed for mutations and deletions in the VHL sequence.