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