Full VWF mutation screen (Type 1 & Type 3 VWD)
Description:
Analysis of the VWF gene by PCR amplification and sequencing of the coding region and splice junctions. Dosage analysis, via MLPA, is available as a second line test where gross deletions/ insertions are suspected.
Clinical details:
Von Willebrand Disease is the most common hereditary bleeding disorder, typically associated with mucocutaneous bleeding (epitaxis, menorrhagia), easy bruising and bleeding post dental extraction.
Type 1 VWD is autosomal dominant, with an estimated frequency of approximately 1:100-1000. It is generally clinically & phenotypically mild, although severe Type 1 VWD is seen and there is sometimes variable penetrance within families. Mutations are heterogeneous and spread throughout the VWF gene.
Type 3 VWD is autosomal recessive and results in severe deficiency of plasma VWF. Patients suffer severe bleeding symptoms including hemarthroses, gastrointestinal bleeds and cerebral hemorrhage. Frequency is estimated at 1:500,000 to 1:2,000,000.
Type 1 VWD is autosomal dominant, with an estimated frequency of approximately 1:100-1000. It is generally clinically & phenotypically mild, although severe Type 1 VWD is seen and there is sometimes variable penetrance within families. Mutations are heterogeneous and spread throughout the VWF gene.
Type 3 VWD is autosomal recessive and results in severe deficiency of plasma VWF. Patients suffer severe bleeding symptoms including hemarthroses, gastrointestinal bleeds and cerebral hemorrhage. Frequency is estimated at 1:500,000 to 1:2,000,000.
Reference range:
n/a
Synonyms or keywords:
VWF
Von Willebrand disease
Type 1 VWD
Type 3 VWD
Units:
n/a
Department:
Location:
Sample type and Volume required:
1 x Edta
Call in advance:
no
Turnaround time:
12 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
