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Genetics Research International
Volume 2013, Article ID 189196, 5 pages
http://dx.doi.org/10.1155/2013/189196
Research Article

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

1Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand
2Genetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand
3Clinical Genetics Group, Department of Paediatrics and Child Health, University of Otago, P.O. Box 56, Dunedin 9054, New Zealand
4School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand

Received 31 March 2013; Revised 7 July 2013; Accepted 18 July 2013

Academic Editor: Lucia Migliore

Copyright © 2013 Clare Brookes et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.