Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder leading to a variety of cancers (or benign tumors) of the brain, eye (retina), spinal cord and other organs, and is associated with mutations in the VHL gene on chromosome 3p26. Typical abnormalities observed in most patients include hemangioblastomas and renal cysts or carcinoma. The majority of cases are inherited from an affected parent while 15-20% is a result of a de novo mutation. However, some patients/cases may exhibit different clinical features (e.g. pheochromocytoma, renal carcinoma and others), probably depending on the nature of the disease mutation.
Evaluation of the family history coupled to molecular genetic testing of the affected member will provide a more accurate assessment of the need for testing at-risk family members, thus allowing timely clinical monitoring. Genetic counseling before and after genetic testing is considered necessary (as in most cancer presymptomatic testing) in order to communicate in the proper way the results and the associated risks.
We perform automated bi-directional fluorescent DNA sequencing of all 3 coding exons and intron/exon boundaries of the VHL gene as well as deletion/duplication testing via MLPA, thus detecting more than 99% of pathological mutations in this gene.
Please note that InterGenetics participates successfully in the EMQN external quality control (EQA) scheme for genetic testing of Von Hippel-Lindau.
See also genomic testing for renal cancer and hereditary leiomyomatosis.