VHL Sequencing for von Hippel-Lindau Disease


von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of angiomas in certain parts of the body. The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas. Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer. These are associated with several pathologies including angioma renal cell carcinoma and phaeochromocytoma. VHL results from a mutation in the Von Hippel-Lindau tumor suppressor gene on chromosome 3p25.3. VHL is an autosomal dominant disorder. An inherited mutation of the VHL gene is responsible for about 80 percent of cases.

OMIM: 193300

Clinical Utility

Detection of mutations in the VHL gene that affect a variety of cancers, particularly pheochromocytomas. The test is done on peripheral blood specimens for confirmation of clinical diagnosis, of carrier status or for pre-symptomatic testing.


PCR amplification and Sanger sequencing of all exons and flanking intron sequence

Loci Tested

VHL all exons 3:g.10183318 - g.10195353

Specimen Requirements

Peripheral blood collected in EDTA (purple top) is preferred, 3-10mL.



Shipment Must Include

Requisition form
Patient pathology report


  1. Latif, Fet al (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260: 1317-1320.