Disorders


 

Bernard-Soulier Syndrome Type A


Synonym(s): GP1BA-Related Giant Platelet Syndrome, Platelet Glycoprotein Ib Deficiency, von Willebrand Factor Receptor Deficiency

 

OMIM

GeneLocusProtein
GP1BA17pter-p12Platelet glycoprotein Ib alpha chain

Laboratory Test Method Prenatal Carrier *
Birmingham Childrens Hospital NHS Foundation Trust, Regional Molecular Haemostasis Laboratory - Birmingham, Great Britain  
BloodCenter of Wisconsin, Hemostasis Reference Laboratory - Milwaukee, WI, USA  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany  
GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust, Molecular Haemostasis and Thrombosis - London, Great Britain  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
University of Greifswald, Institute of Human Genetics - Greifswald, Germany  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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