Diagnostic Genetics at a Distance : Von Hippel-Lindau Disease and a Novel Mutation

Abstract EN

Genetic testing at a distance is commonplace where members of a family with a segregating germline mutation are geographically separated.

For the most part, this challenge is addressed through the intervention of health professionals in taking and/or processing blood samples for subsequent couriering of DNA to a referral laboratory.

In some circumstances, however, the collecting of pivotal clinical material may involve direct patient involvement.

We describe such a situation where noninvasive saliva samples were provided by members of a family manifesting Von Hippel-Lindau (VHL) disease.

The analysis identified a novel mutation in the VHL gene that was used to exclude other family members as being at risk of VHL disease.