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
- Reference range
n/a
- Units
- n/a
- Synonyms
- GP1BA GP1BB GP9 Bernard Soulier Syndrome Macrothrombocytopenia
- Testing site
- Synnovis : Genomics : St Thomas' Hospital
- Laboratory
- Molecular Haemostasis
- Sample type and volume required
- 1 x Edta
- Call in advance
- no
- Storage and transport
- transport at ambient temperature
- Turnaround time
- 12 weeks
- Contacts
Molecular Haemostasis Laboratory at St Thomas’ Hospital
Phone: 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