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Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation.

ABSTRACT: 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.

SUBMITTER: Brookes C

PROVIDER: S-EPMC3767047 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation.

Brookes Clare C Prosser Debra O DO Love Jennifer M JM Gardner R J McKinlay RJ Love Donald R DR

Genetics research international 20130826

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 sa ...[more]

PMID: 24062953

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