F2 mutation screen

Description: 
Analysis of the F2 gene by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.
Clinical details: 
Heritable Prothrombin deficiency is an autosomal recessive rare bleeding disorder, caused by defects in the F2 gene. Clinical presentation can be severe or even life threatening. It often manifests from birth, with bleeding from the umbilical stalk. The majortiy of patients with prothrombin deficiency will have mucosal bleeding, and the majority of females will also have menorrhagia. Even severely affected individuals have detectable levels of prothrombin and it is thought complete absence is incompatible with post-natal survival.
Reference range: 

n/a

Synonyms or keywords: 
Factor II F2 Prothrombin deficiency Hypoprothrombinemia Dysprothrombinemia
Units: 
n/a
Sample type and Volume required: 
1 x Edta
Call in advance: 
no
Turnaround time: 
8 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