University Library
  • Login
A gateway to Melbourne's research publications
Minerva Access is the University's Institutional Repository. It aims to collect, preserve, and showcase the intellectual output of staff and students of the University of Melbourne for a global audience.
View Item 
  • Minerva Access
  • Medicine, Dentistry & Health Sciences
  • Melbourne Medical School
  • Paediatrics (RCH)
  • Paediatrics (RCH) - Research Publications
  • View Item
  • Minerva Access
  • Medicine, Dentistry & Health Sciences
  • Melbourne Medical School
  • Paediatrics (RCH)
  • Paediatrics (RCH) - Research Publications
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

    Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

    Thumbnail
    Download
    Published version (169.8Kb)

    Citations
    Web of Science
    Altmetric
    17
    Author
    Walsh, M; Bell, KM; Chong, B; Creed, E; Brett, GR; Pope, K; Thorne, NP; Sadedin, S; Georgeson, P; Phelan, DG; ...
    Date
    2017-05-01
    Source Title
    Annals of Clinical and Translational Neurology
    Publisher
    WILEY
    University of Melbourne Author/s
    Ryan, Monique; Thorne, Natalie; Georgeson, Peter; Sexton, Adrienne; Lockhart, Paul; Gaff, Clara; James, Paul; YIU, EPPIE; Oshlack, Alicia; Fahey, Michael
    Affiliation
    Paediatrics (RCH)
    Medical Biology (W.E.H.I.)
    School of Physics
    Medicine and Radiology
    Sir Peter MacCallum Department of Oncology
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Walsh, M., Bell, K. M., Chong, B., Creed, E., Brett, G. R., Pope, K., Thorne, N. P., Sadedin, S., Georgeson, P., Phelan, D. G., Day, T., Taylor, J. A., Sexton, A., Lockhart, P. J., Kiers, L., Fahey, M., Macciocca, I., Gaff, C. L., Oshlack, A. ,... Ryan, M. M. (2017). Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 4 (5), pp.318-325. https://doi.org/10.1002/acn3.409.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/256141
    DOI
    10.1002/acn3.409
    Abstract
    OBJECTIVE: To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) in a cohort of individuals with peripheral neuropathy. METHODS: Singleton WES was performed in individuals recruited though one pediatric and one adult tertiary center between February 2014 and December 2015. Initial analysis was restricted to a virtual panel of 55 genes associated with peripheral neuropathies. Patients with uninformative results underwent expanded analysis of the WES data. Data on the cost of prior investigations and assessments performed for diagnostic purposes in each patient was collected. RESULTS: Fifty patients with a peripheral neuropathy were recruited (median age 18 years; range 2-68 years). The median time from initial presentation to study enrollment was 6 years 9 months (range 2 months-62 years), and the average cost of prior investigations and assessments for diagnostic purposes AU$4013 per patient. Eleven individuals received a diagnosis from the virtual panel. Eight individuals received a diagnosis following expanded analysis of the WES data, increasing the overall diagnostic yield to 38%. Two additional individuals were diagnosed with pathogenic copy number variants through SNP microarray. CONCLUSIONS: This study provides evidence that WES has a high diagnostic utility and is cost effective in patients with a peripheral neuropathy. Expanded analysis of WES data significantly improves the diagnostic yield in patients in whom a diagnosis is not found on the initial targeted analysis. This is primarily due to diagnosis of conditions caused by newly discovered genes and the resolution of complex and atypical phenotypes.

    Export Reference in RIS Format     

    Endnote

    • Click on "Export Reference in RIS Format" and choose "open with... Endnote".

    Refworks

    • Click on "Export Reference in RIS Format". Login to Refworks, go to References => Import References


    Collections
    • Minerva Elements Records [53039]
    • Sir Peter MacCallum Department of Oncology - Research Publications [1023]
    • Medicine and Radiology - Research Publications [3320]
    • School of Physics - Research Publications [1059]
    • Medical Biology - Research Publications [1415]
    • Paediatrics (RCH) - Research Publications [2390]
    Minerva AccessDepositing Your Work (for University of Melbourne Staff and Students)NewsFAQs

    BrowseCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects
    My AccountLoginRegister
    StatisticsMost Popular ItemsStatistics by CountryMost Popular Authors