Targeted VWF mutation screen (Type 2 VWD)
Description:
Targeted analysis of the VWF gene for mutations associated with Type 2 VWD phenotypes.
Clinical details:
Type 2 Von Willebrand Disease covers a range of qualitative defects in the VWF gene producing different phenotypes.
Type 2A - Multimerisation defect / reduced VWF-dependent platelet adhesion.
Type 2B - Increased affinity for platelets / increased VWF-dependent platelet adhesion.
Type 2M - Decreased VWF affinity for platelets.
Type 2N - Defects of VWF binding to FVIII.
Type 2 / Qualitative defects tend to be clustered in regions of the VWF gene that code for functional regions of the VWF protein allowing targeted screening.
Type 2A - Multimerisation defect / reduced VWF-dependent platelet adhesion.
Type 2B - Increased affinity for platelets / increased VWF-dependent platelet adhesion.
Type 2M - Decreased VWF affinity for platelets.
Type 2N - Defects of VWF binding to FVIII.
Type 2 / Qualitative defects tend to be clustered in regions of the VWF gene that code for functional regions of the VWF protein allowing targeted screening.
Reference range:
n/a
Synonyms or keywords:
VWF
Von Willebrand disease
Type 2A VWD
Type 2B VWD
Type 2M VWD
Type 2N VWD
VWD Normandy
Units:
n/a
Department:
Location:
Sample type and Volume required:
1 x Edta
Call in advance:
no
Turnaround time:
4 weeks
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
North Wing - 4th floor
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
Laboratory opening times
Monday - Friday 09.00 - 17.00
Laboratory:
Last updated: 14/03/2017
