GP1BA mutation screen for Platelet / Pseudo VWD

Description: 
Analysis of the GP1BA gene by PCR amplification and sequencing of the coding region and splice junctions.
Clinical details: 
Platelet-type VWD or pseudo-VWD is a rare autosomal dominant bleeding disorder caused by mutations in the GP1BA gene. Mutations result in enhanced binding of VWF to the platelet GPIb receptor with the subsequent removal of VWF from the circulation, particularly the larger multimers.
Related condition or disease: 
Platelet-type von Willebrand disease.
Pseudo-von Willebrand disease.
Reference range: 

n/a

Synonyms or keywords: 
GP1BA Platelet-type VWD Pseudo-VWD
Units: 
n/a
Department: 
Haemostasis and Thrombosis Department
Location: 
St Thomas' Hospital
Sample type and Volume required: 
1 x Edta
Call in advance: 
no
Turnaround time: 
8 weeks
Criteria for acceptance / rejections of sample
Storage and transport: 
transport at ambient temperature
Contacts:
Molecular Haemostasis Laboratory at St Thomas'
020 7188 2798
Haemostasis and Thrombosis
North Wing - 4th floor
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH

Laboratory opening times
Monday - Friday 09.00 - 17.00
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Molecular Haemostasis Laboratory at St Thomas'

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Last updated: 14/03/2017