Disorders

Pseudo-von Willebrand Disease

Synonym(s): Platelet-Type von Willebrand Disease

Gene	Locus	Protein
GP1BA	17pter-p12	Platelet glycoprotein Ib alpha chain

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Targeted mutation analysis
Birmingham Childrens Hospital NHS Foundation Trust, Regional Molecular Haemostasis Laboratory - Birmingham, Great Britain	• Sequence analysis of select exons
BloodCenter of Wisconsin, Hemostasis Reference Laboratory - Milwaukee, WI, USA
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Sequence analysis of select exons

^* 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.