Disorders

Bernard-Soulier Syndrome Type B

Synonym(s): GP1BB-Giant Platelet Syndrome

Gene	Locus	Protein
GP1BB	22q11.21-q11.23	Platelet glycoprotein Ib beta 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
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 Chicago, Genetic Services Laboratory - Chicago, IL, USA
University of Greifswald, Institute of Human Genetics - Greifswald, Germany
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA

^* 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.