F10 mutation screen
Description:
Analysis of the F10gene by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.
Clinical details:
Heritable factor X deficiency is a rare autosomal recessive bleeding disorder, caused by defects in the F10 gene, with a prevalence of 1 in 0.5-1 million. Heterozygotes are generally asymptomatic but may exibit a mild bleeding phenotype and can be at greater risk of bleeding following surgery or trauma. Homozygotes may suffer hematuria, soft-tissue bleeds, hemarthroses, recurrent existaxis and menhorrhagia.
Reference range:
n/a
Synonyms or keywords:
Factor X deficiency
Stuart-Prower deficiency
F10
Hereditary bleeding
Units:
n/a
Department:
Location:
Sample type and Volume required:
1 x Edta
Call in advance:
no
Turnaround time:
6 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