von Hippel-Lindau Disease (VHL): VHL (NEP) (Full Gene Sequencing)

Whole blood; DNA is accepted (Call 800-345-4363 for DNA collection information.)

2 mL

Lavender-top (EDTA) tube

Confirm a clinical diagnosis of VHL; identify presymptomatic family members

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure.

DNA sequencing

Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.

von Hippel-Lindau disease (VHL) is a dominantly inherited familial cancer syndrome characterized by multifocal occurrence of retinal, cerebellar, and/or spinal hemangioblastomas, pheochromocytomas, and renal cell carcinomas. In addition, numerous other visceral neoplasms have been observed. VHL is associated with mutations in the gene VHL, and almost all mutation carriers are symptomatic by 65 years of age. Risk of renal cell carcinoma, the major cause of mortality in VHL, is correlated to the type of VHL mutation, with large deletions or truncations conferring a high risk. Genetic testing can confirm a clinical diagnosis of VHL and detect mutation carriers within affected families.