Last update: 05/06/2006
Background to disease
OMIM 193300
Von Hippel-Lindau syndrome (VHL) is a dominantly inherited cancer syndrome, predisposing to a range of neoplasms, commonly retinal angiomas, cerebellar and spinal haemangioblastomas, renal cell carcinomas, and phaeochromocytomas.
Germline mutations (intragenic changes as well as deletions) of the VHL gene account for the familial occurrence of the syndrome, with VHL functioning as a tumour suppressor gene. Inactivation of both copies, after a second, somatic, mutation appears to be required for tumour development. The product of the VHL gene forms complexes and regulates degradation of certain proteins, including a transcription factor involved in oxygen sensing.
Laboratory Analysis
Contact scientist: Lampros Mavrogiannis
|
Test |
Target reporting time (working days) |
|
| 1. |
Full coding region sequencing (5’ part of exon 1 not covered) |
40 |
| 2. |
MLPA dosage analysis
|
40 |
| 3. |
Predictive testing where familial mutation known |
10 |