Disorders

Bernard-Soulier Syndrome Type A

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

OMIM

Gene	Locus	Protein
GP1BA	17pter-p12	Platelet 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.