Disorders

Thrombasthenia of Glanzmann and Naegeli, ITGB3-Related

Synonym(s): Glycoprotein Complex IIb-IIIa, Deficiency of, Platelet Fibrinogen Receptor, Deficiency of, Platelet Glycoprotein IIb-IIIa Deficiency

OMIM

Gene	Locus	Protein
ITGB3	17q21.32	Integrin beta-3

Laboratory	Test Method	Prenatal	Carrier *
Birmingham Childrens Hospital NHS Foundation Trust, Regional Molecular Haemostasis Laboratory - Birmingham, Great Britain
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
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
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
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.