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

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 courierin...

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Autores principales: Brookes, Clare, Prosser, Debra O., Love, Jennifer M., Gardner, R. J. McKinlay, Love, Donald R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3767047/
https://www.ncbi.nlm.nih.gov/pubmed/24062953
http://dx.doi.org/10.1155/2013/189196
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author Brookes, Clare
Prosser, Debra O.
Love, Jennifer M.
Gardner, R. J. McKinlay
Love, Donald R.
author_facet Brookes, Clare
Prosser, Debra O.
Love, Jennifer M.
Gardner, R. J. McKinlay
Love, Donald R.
author_sort Brookes, Clare
collection PubMed
description 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.
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spelling pubmed-37670472013-09-23 Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation Brookes, Clare Prosser, Debra O. Love, Jennifer M. Gardner, R. J. McKinlay Love, Donald R. Genet Res Int Research Article 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. Hindawi Publishing Corporation 2013 2013-08-26 /pmc/articles/PMC3767047/ /pubmed/24062953 http://dx.doi.org/10.1155/2013/189196 Text en Copyright © 2013 Clare Brookes et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Research Article
Brookes, Clare
Prosser, Debra O.
Love, Jennifer M.
Gardner, R. J. McKinlay
Love, Donald R.
Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation
title Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation
title_full Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation
title_fullStr Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation
title_full_unstemmed Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation
title_short Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation
title_sort diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3767047/
https://www.ncbi.nlm.nih.gov/pubmed/24062953
http://dx.doi.org/10.1155/2013/189196
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