Von Hippel-Lindau Disease (VHL) Testing
Use
Von Hippel-Lindau (VHL) disease is a genetic disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in different parts of the body. VHL gene testing is critical as it may guide screening and early detection measures, which can lead to improved outcomes. The VHL gene is associated with increased risks of developing tumors in various organs such as the brain, spinal cord, eye, kidney, pancreas, and adrenal glands.
Special Instructions
Family variant testing is offered at no additional cost for blood relatives of patients who undergo full single gene sequencing and are found to have a pathogenic or likely pathogenic variant. Testing should be completed within 90 days of the original report date. More closely related relatives should be tested before more distant relatives. Ambry Genetics provides such family testing services only to patients receiving medical care in the U.S or US territories.
Limitations
This test can detect more than 99.9% of described mutations in the VHL gene when present, making it highly sensitive. Despite this, there may still be complex genomic rearrangements or mutations outside the regions examined which escape detection, and the presence of intronic variants beyond 5 base pairs may not be reported if deemed unlikely to be of clinical significance.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided