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: Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Researchers

Presenter

  • Noemi Roy

Principal Investigators

  • Irene Roberts

  • Hannah Tamary

  • Dorine W. Swinkels

  • Aguilar-Martinez Patricia

  • Paola Bianchi

  • Raffaella Colombatti

  • Roberta Russo

  • Barnaby Clark

  • Mayka Sanchez

  • Rafael Andres DEL Orbe Barreto

  • Elisa Fermo

  • Vip Viprakasit

  • Jiraporn Korchuenjit

  • Tabita Magalhaes Maia

  • Frances Smith

  • Maria del Mar Manu

  • Lydie Da Costa

  • Antonio Marzollo

  • Anabelen Hozdelarastrollo

  • Beatriz Arrizabalaga

  • Delasalle Barbara

  • Achille Iolascon

Medical Centers

  • Department of Cellular Pathology, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom

  • Oxford NIHR Biomedical Research Centre, Oxford, United Kingdom

  • Oxford University Hospitals NHS Trust, Oxford, United Kingdom

  • MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford and BRC Blood Theme, NIHR Oxford Biomedical Centre, Oxford, United Kingdom

  • MRC Molecular Haematology Unit and Paediatrics, MRC Weatherall Institute of Molecular Medicine, Oxford, United Kingdom

  • Department of Oncology, University of Oxford, Oxford, United Kingdom

  • MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom

  • Sackler Faculty Of Medicine, Tel-Aviv University, Tel-Aviv, Israel

  • Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah-Tikva, Israel

  • Molecular Oncology, Felsenstein Medical Research Center, Sackler Faculty of Medicine Tel Aviv University, Petach Tikva, Israel

  • Dep. of Laboratory Medicine (TML 830), Radboud University Medical Centre, Nijmegen, Netherlands

  • CHU de Montpellier, Montpellier, France

  • UOC Ematologia, UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy

  • IRCCS Fondazione Ca Granda Ospedale Maggiore Policlinico Milano, Milano, Italy

  • Clinic of Pediatric Hematology Oncology, PADOVA, ITA

  • University Federico II, Napoli, Italy

  • Viapath, LONDON, GBR

  • Bloodgenetics, splugues de Llobregat, ESP

  • Edif. Laboratorios, planta baja., Hospital Universitario Cruces Servicio de Hematología. Sección Eritropatología - Hem. Molecular, Barakaldo, Spain

  • Department of Pediatrics and Thalassemia Center, Siriraj Hospital, Mahidol University, Bangkok, Thailand

  • Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

  • Centro Hospitalar e Universitário de Coimbra - Hospital Geral, Coimbra, Portugal

  • H&I, Viapath,, London, United Kingdom

  • Hospital Clinic Barcelona, Barcelona, Spain

  • Service d'Hématologie Biologique, LABEX GR-Ex, Paris 7 University, UMR S1134-Inserm, AP-HP, Hôpital Robert Debré, Paris, France

  • University of Padova, Department of Mother and Child Health, Padova, Italy

  • Hospital Universitario Cruces Servicio de Hematología. Edif. Laboratorios, planta baja. Sección Eritropatología., Barakaldo, Spain

  • Hematology, Hospital Universitario La Fe, Valencia, Spain

  • Grupo Espanol de Sindromes Mielodisplasicos, Madrid, Spain

  • NEQAS, West Hertfordshire Hospitals NHS Trust Trust Offices Watford General Hospital, Watford, United Kingdom

  • CEINGE University Federico II of Naples, CEINGE University Federico II of Naples, Naples, Italy

Locations

  • United Kingdom

  • Israel

  • Netherlands

  • France

  • Italy

  • Spain

  • Thailand

  • Portugal

Companies

  • N/A

Study Components

Therapeutic Area

  • Blood/haematological Diseases

  • Genetic Disorder

Disease

  • Diamond-Blackfan anemia

  • Sideroblastic anemia

  • Velocardiofacial syndrome

Biomarkers

  • N/A

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • Multinational

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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