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Sökning: WFRF:(McCann Emma) > (2020-2023) > Clinical testing pa...

  • Dilliott, Allison A.Department of Neurology and Neurosurgery, McGill University, Montreal, Canada (författare)

Clinical testing panels for ALS : global distribution, consistency, and challenges

  • Artikel/kapitelEngelska2023

Förlag, utgivningsår, omfång ...

  • 2023-03-10
  • Taylor & Francis,2023
  • electronicrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:umu-206369
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-206369URI
  • https://doi.org/10.1080/21678421.2023.2173015DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Objective: In 2021, the Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was established to evaluate the strength of evidence for genes previously reported to be associated with ALS. Through this endeavor, we will provide standardized guidance to laboratories on which genes should be included in clinical genetic testing panels for ALS. In this manuscript, we aimed to assess the heterogeneity in the current global landscape of clinical genetic testing for ALS.Methods: We reviewed the National Institutes of Health (NIH) Genetic Testing Registry (GTR) and members of the ALS GCEP to source frequently used testing panels and compare the genes included on the tests.Results: 14 clinical panels specific to ALS from 14 laboratories covered 4 to 54 genes. All panels report on ANG, SOD1, TARDBP, and VAPB; 50% included or offered the option of including C9orf72 hexanucleotide repeat expansion (HRE) analysis. Of the 91 genes included in at least one of the panels, 40 (44.0%) were included on only a single panel. We could not find a direct link to ALS in the literature for 14 (15.4%) included genes.Conclusions: The variability across the surveyed clinical genetic panels is concerning due to the possibility of reduced diagnostic yields in clinical practice and risk of a missed diagnoses for patients. Our results highlight the necessity for consensus regarding the appropriateness of gene inclusions in clinical genetic ALS tests to improve its application for patients living with ALS and their families.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Al Nasser, AhmadSchulich School of Medicine and Dentistry, Western University, London, Canada (författare)
  • Elnagheeb, MarwaDepartment of Genetics, University of North Carolina, NC, Chapel Hill, United States (författare)
  • Fifita, JenniferCentre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia (författare)
  • Henden, LyndalCentre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia (författare)
  • Keseler, Ingrid M.Department of Biomedical Data Science, Stanford University, CA, Stanford, United States (författare)
  • Lenz, StevenPreventionGenetics, WI, Marshfield, United States (författare)
  • Marriott, HeatherDepartment of Basic and Clinical Neuroscience, King’s College London, London, United Kingdom (författare)
  • Mccann, EmilyCentre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia (författare)
  • Mesaros, MaysenMedical University of South Carolina, SC, Charleston, United States (författare)
  • Opie-Martin, SarahDepartment of Basic and Clinical Neuroscience, King’s College London, London, United Kingdom (författare)
  • Owens, EmmaDepartment of Genetics, University of North Carolina, NC, Chapel Hill, United States (författare)
  • Palus, BrookeDepartment of Genetics, University of North Carolina, NC, Chapel Hill, United States (författare)
  • Ross, JustyneDepartment of Genetics, University of North Carolina, NC, Chapel Hill, United States (författare)
  • Wang, ZhanjunDepartment of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China (författare)
  • White, HannahInvitae, CA, San Francisco, United States (författare)
  • Al-Chalabi, AmmarDepartment of Basic and Clinical Neuroscience, King’s College London, London, United Kingdom (författare)
  • Andersen, Peter M.,1962-Umeå universitet,Neurovetenskaper(Swepub:umu)pean0001 (författare)
  • Benatar, MichaelDepartment of Neurology, University of Miami, FL, Miami, United States (författare)
  • Blair, IanCentre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia (författare)
  • Cooper-Knock, JohnathanDepartment of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom (författare)
  • Harrington, Elizabeth A.Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, NY, New York City, United States (författare)
  • Heckmann, JeannineDivision of Neurology, University of Cape Town, Cape Town, South Africa (författare)
  • Landers, JohnDepartment of Neurology, University of Massachusetts Amherst, MA, Amherst, United States (författare)
  • Moreno, CristianeDepartment of Neurology, University of Sao Paulo, Sao Paulo, Brazil (författare)
  • Nel, MelissaDivision of Neurology, University of Cape Town, Cape Town, South Africa (författare)
  • Rampersaud, EvadnieCenter for Applied Bioinformatics, St. Jude’s Children’s Hospital, TN, Memphis, United States (författare)
  • Roggenbuck, JenniferDepartment of Internal Medicine, Ohio State University, OH, Columbus, United States (författare)
  • Rouleau, GuyDepartment of Neurology and Neurosurgery, McGill University, Montreal, Canada; Department of Genetics, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada; Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada (författare)
  • Traynor, BryanNeuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, MD, Bethesda, United States (författare)
  • Van Blitterswijk, MarkaDepartment of Neuroscience, Mayo Clinic, FL, Jacksonville, United States (författare)
  • Van Rheenen, WouterDepartment of Neurology, University Medical Center Utrecht Brain Center, Utrecht, Netherlands (författare)
  • Veldink, JanDepartment of Neurology, University Medical Center Utrecht Brain Center, Utrecht, Netherlands (författare)
  • Weishaupt, JochenDepartment of Neurology, Heidelberg University, Heidelberg, Germany (författare)
  • Drury, LukePreventionGenetics, WI, Marshfield, United States (författare)
  • Harms, Matthew B.Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, NY, New York City, United States (författare)
  • Farhan, Sali M. K.Department of Genetics, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada; Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada (författare)
  • Department of Neurology and Neurosurgery, McGill University, Montreal, CanadaSchulich School of Medicine and Dentistry, Western University, London, Canada (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration: Taylor & Francis24:5-6, s. 420-4352167-84212167-9223

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