Glanzmann Thrombasthenia

Incidence and onset information

Researches and researchers

Doctors, researchs, and experts related to Glanzmann Thrombasthenia extracted from public data.

Glanzmann Thrombasthenia Experts map

Current Researchs and researchers

• PARIS — Dr Thierry LEBLANC

  Coordinator of expert centre - Clinical expert - Investigator of research project - Contact person of registry
  
  

  • Institution/s:
    — Pôle de pédiatrie médicale, CHU Paris - Hôpital Robert Debré
    — CHU Paris - Hôpital Robert Debré
    — CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
  • Research area/topic::
    

    Constitutive hematologic diseases: clinical and therapeutic research, molecular biology



• VILLENEUVE D'ASCQ CEDEX — Dr Caroline DESOMBRE

  Investigator of research project
  
  

  • Institution/s:
    — Univ Lille Nord de France Université de Lille 3
  • Research area/topic::
    

    Students affected by hemophilia and other family-related hemorrhagic diseases: how to restore equal opportunities at school



• GREIFSWALD — Pr Ute FELBOR

  Coordinator of expert centre - Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department
  
  

  • Institution/s:
    — Universitätsmedizin Greifswald
    — Institut für Humangenetik der Universitätsmedizin Greifswald
    — Institut für Humangenetik der Universitätsmedizin Greifswald
  • Research area/topic::
    

    Mutational spectra and clinical manifestation in patients with congenital haemophilia



• GREIFSWALD — Dr Matthias RATH

  Responsible for diagnostic tests - Investigator of research project
  
  

  • Institution/s:
    — Institut für Humangenetik der Universitätsmedizin Greifswald
  • Research area/topic::
    

    Mutational spectra and clinical manifestation in patients with congenital haemophilia



• GREIFSWALD — Dr Winnie SCHRÖDER

  Responsible for diagnostic tests - Investigator of research project - Contact person of registry
  
  

  • Institution/s:
    — Institut für Humangenetik der Universitätsmedizin Greifswald
  • Research area/topic::
    

    Mutational spectra and clinical manifestation in patients with congenital haemophilia

Glanzmann Thrombasthenia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...) View the complete list with 34 more genes Panel complete gene list RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3, ANO6, ADRA2A, DHCR24, ANKRD26, MLPH, DPAGT1, NBEAL2, F8, FGA, FGB, FGG, FLNA, GATA1, GFI1B, GGCX, GNAQ, GNAS, GP1BA, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, KLKB1, A2M, MPL, MYH9, MYO5A, P2RX1, BLOC1S6, PLA2G7, PLAU, RAB27A Close Specificity 4 % Genes 100 %
Thrombocytopenia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...) View the complete list with 23 more genes Panel complete gene list CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26, NBEAL2, SLFN14, ETV6, FLI1, FLNA, FYB1, GATA1, GATA2, GFI1B, GP1BA, GP1BB, GP9, CFH, CFHR1, HOXA11, CFI, ITGA2B, ITGB3, CD46, MPL, MYH9, PRKACG, RBM8A Close Specificity 5 % Genes 100 %
Thrombocytopenia Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...) View the complete list with 23 more genes Panel complete gene list CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26, NBEAL2, SLFN14, ETV6, FLI1, FLNA, FYB1, GATA1, GATA2, GFI1B, GP1BA, GP1BB, GP9, CFH, CFHR1, HOXA11, CFI, ITGA2B, ITGB3, CD46, MPL, MYH9, PRKACG, RBM8A Close Specificity 5 % Genes 100 %
Glanzmann thrombasthenia. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). ITGA2B, ITGB3 Specificity 100 % Genes 100 %
Glanzmann thrombasthenia. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom). ITGA2B, ITGB3 Specificity 100 % Genes 100 %
ITGA2B. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ITGA2B Specificity 100 % Genes 50 %
Glanzmann thrombasthenia (sequence analysis of ITGA2B gene). By CGC Genetics (Portugal). ITGA2B Specificity 100 % Genes 50 %
Glanzmann's thrombasthenia. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). ITGA2B, ITGB3 Specificity 100 % Genes 100 %

Sources and references

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