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.
- Related condition
- Reference range
n/a
- Units
- n/a
- Synonyms
- VWF Von Willebrand disease Type 2A VWD Type 2B VWD Type 2M VWD Type 2N VWD VWD Normandy
- 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
- 4 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