SwePub
Tyck till om SwePub Sök här!
Sök i LIBRIS databas

  Utökad sökning

onr:"swepub:oai:DiVA.org:umu-206369"
 

Sökning: onr:"swepub:oai:DiVA.org:umu-206369" > Clinical testing pa...

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

Dilliott, Allison A. (författare)
Department of Neurology and Neurosurgery, McGill University, Montreal, Canada
Al Nasser, Ahmad (författare)
Schulich School of Medicine and Dentistry, Western University, London, Canada
Elnagheeb, Marwa (författare)
Department of Genetics, University of North Carolina, NC, Chapel Hill, United States
visa fler...
Fifita, Jennifer (författare)
Centre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia
Henden, Lyndal (författare)
Centre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia
Keseler, Ingrid M. (författare)
Department of Biomedical Data Science, Stanford University, CA, Stanford, United States
Lenz, Steven (författare)
PreventionGenetics, WI, Marshfield, United States
Marriott, Heather (författare)
Department of Basic and Clinical Neuroscience, King’s College London, London, United Kingdom
Mccann, Emily (författare)
Centre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia
Mesaros, Maysen (författare)
Medical University of South Carolina, SC, Charleston, United States
Opie-Martin, Sarah (författare)
Department of Basic and Clinical Neuroscience, King’s College London, London, United Kingdom
Owens, Emma (författare)
Department of Genetics, University of North Carolina, NC, Chapel Hill, United States
Palus, Brooke (författare)
Department of Genetics, University of North Carolina, NC, Chapel Hill, United States
Ross, Justyne (författare)
Department of Genetics, University of North Carolina, NC, Chapel Hill, United States
Wang, Zhanjun (författare)
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China
White, Hannah (författare)
Invitae, CA, San Francisco, United States
Al-Chalabi, Ammar (författare)
Department of Basic and Clinical Neuroscience, King’s College London, London, United Kingdom
Andersen, Peter M., 1962- (författare)
Umeå universitet,Neurovetenskaper
Benatar, Michael (författare)
Department of Neurology, University of Miami, FL, Miami, United States
Blair, Ian (författare)
Centre for MND Research, Macquarie Medical School, Macquarie University, Sydney, Australia
Cooper-Knock, Johnathan (författare)
Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom
Harrington, Elizabeth A. (författare)
Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, NY, New York City, United States
Heckmann, Jeannine (författare)
Division of Neurology, University of Cape Town, Cape Town, South Africa
Landers, John (författare)
Department of Neurology, University of Massachusetts Amherst, MA, Amherst, United States
Moreno, Cristiane (författare)
Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil
Nel, Melissa (författare)
Division of Neurology, University of Cape Town, Cape Town, South Africa
Rampersaud, Evadnie (författare)
Center for Applied Bioinformatics, St. Jude’s Children’s Hospital, TN, Memphis, United States
Roggenbuck, Jennifer (författare)
Department of Internal Medicine, Ohio State University, OH, Columbus, United States
Rouleau, Guy (författare)
Department 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
Traynor, Bryan (författare)
Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, MD, Bethesda, United States
Van Blitterswijk, Marka (författare)
Department of Neuroscience, Mayo Clinic, FL, Jacksonville, United States
Van Rheenen, Wouter (författare)
Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht, Netherlands
Veldink, Jan (författare)
Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht, Netherlands
Weishaupt, Jochen (författare)
Department of Neurology, Heidelberg University, Heidelberg, Germany
Drury, Luke (författare)
PreventionGenetics, WI, Marshfield, United States
Harms, Matthew B. (författare)
Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, NY, New York City, United States
Farhan, Sali M. K. (författare)
Department of Genetics, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada; Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada
visa färre...
 (creator_code:org_t)
2023-03-10
2023
Engelska.
Ingår i: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. - : Taylor & Francis. - 2167-8421 .- 2167-9223. ; 24:5-6, s. 420-435
Relaterad länk:
https://doi.org/10.1...
visa fler...
https://umu.diva-por... (primary) (Raw object)
https://urn.kb.se/re...
https://doi.org/10.1...
visa färre...
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)

Nyckelord

Amyotrophic lateral sclerosis
clinical laboratories
gene panels
gene-disease relationships
genetic testing

Publikations- och innehållstyp

ref (ämneskategori)
art (ämneskategori)

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy