Disorders


 

Bernard-Soulier Syndrome Type B


Synonym(s): GP1BB-Giant Platelet Syndrome

 

OMIM

GeneLocusProtein
GP1BB22q11.21-q11.23Platelet glycoprotein Ib beta chain

Laboratory Test Method Prenatal Carrier *
Birmingham Childrens Hospital NHS Foundation Trust, Regional Molecular Haemostasis Laboratory - Birmingham, Great Britain• Sequence analysis of the entire coding region
BloodCenter of Wisconsin, Hemostasis Reference Laboratory - Milwaukee, WI, USA• Sequence analysis of the entire coding region
 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust, Molecular Haemostasis and Thrombosis - London, Great Britain• Sequence analysis of the entire coding region
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
University of Greifswald, Institute of Human Genetics - Greifswald, Germany• Sequence analysis of the entire coding region
 
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA• Sequence analysis of the entire coding region
 

* 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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