GP1BA, GP1BB, GP9 mutation screen for Bernard Soulier Syndrome

Description: 
Analysis of the GP1BA, GP1BB and GP9 genes by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.
Clinical details: 
Bernard Soulier Syndrome is a rare autosomal recessive disorder associated with mucocutaneous bleeding. It has an estimated frequency of ~1:1000000 and is caused by qualitative or quantitative defects in the platelet membrane GPIb-IX-V receptor complex. This complex is composed of four polypeptides: GPIb, GPIbβ , GPIX and GPV. These polypeptides are coded for by the genes GPIBA, GPIBB, GP9 and GP5 respectively. Mutations causative of BSS have been identified in 3 of these, and thus molecular analysis is currently limited to GPIBA , GPIBB and GP9.
Related condition or disease: 
Bernard Soulier Syndrome
Macrothrombocytopenia

Potential differential diagnosis:
Glanzmann Thrombasthenia
MYH9-related disorder (MYH9-RD)
Grey Platelet syndrome
Von Willebrand disease (VWD)
Reference range: 

n/a

Synonyms or keywords: 
GP1BA GP1BB GP9 Bernard Soulier Syndrome Macrothrombocytopenia
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: 
12 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'

Print as a PDF

Last updated: 14/03/2017