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
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
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 14/03/2017