Von Hippel-Lindau syndrome (VHL) Deletion Duplication testing Test

Von Hippel Lindau (VHL) is a gene the mutations of which are associated with the Von Hippel Lindau syndrome. Implications of this syndrome include a greater risk of kidney cancer, tumors of the pancreas, retinal angioma, hemangioblastoma, and pheochromocytoma. The various mutations of the gene which lead to the syndrome can be diagnosed by performing a clinical test.

No prior preparation is required. Some symptoms of the syndrome may appear, which trigger the need to get the VHL test.

The primary use of the test is to confirm the presence of the Von Hippel Lindau syndrome on the appearance of the related symptoms.

The test for the Von Hippel Lindau syndrome is a genetic test, which requires a sample of the genes of the person being tested. This genetic sample can be collected either from the blood, or a cheek swab. The cheek swab is collected from the inner lining of the cheek.

From this gene sample, the bi-directional sequence of the coding regions, i.e., the exons 1-3 and splice sites of the VHL gene are analyzed for variants which may be contributing to the syndrome. A concurrent, targeted array CGH analysis with exon-level resolution (Exon ArrayS) is performed to evaluate for a deletion or duplication of one or more exons of this gene. This deletion or duplication is an indicator of the presence of the syndrome.