Laboratory Medicine Program

Von Hippel-Lindau Syndrome (VHL)

Clinical Decription:
Von Hippel Lindau (VHL) syndrome is a rare hereditary condition that is characterized by one or more of the following features: hemangioblastomas of the brain, spinal cord, and retina, renal cysts, clear cell renal cell carcinoma, pheochromocytoma, pancreatic cysts, neuroendocrine tumors, endolymphatic sac tumors and epididymal and broad ligament cysts. VHL syndrome exhibits variable expression and reduced penetrance. Note: This is a blood test for individuals with clinical features and/or a family history of confirmed VHL syndrome. It is not a tumour test for somatic VHL gene mutations in individuals with kidney cancer.

Method: Next-Generation Sequencing (NGS)

Component Tests Used: n/a

Reference Ranges Used:
Reference ranges for this test are not available online. However, they are included in all test results. For more information, please call us.

Specimen Type: peripheral blood (EDTA)
Volume: 5 mL (minimum: 2 mL)

Shipping: room temperature or 4C

Special Instructions: See requisitions for the full list of available testing and special instructions.

Testing Schedule(s): Please call

Turnaround Time: None

For more information, call 416.340.5227 or 1.866.865.5227