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
- Reference range
n/a
- Units
- n/a
- Synonyms
- GP1BA Platelet-type VWD Pseudo-VWD
- 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
- 8 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