F9 mutation screen for haemophilia B

Description: 
Analysis of the F9gene by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach. Dosage analysis, via MLPA, is available as a second line test where gross deletions/ insertions are suspected.
Clinical details: 
Haemophilia B is an X-linked bleeding disorder of variable severity, the result of facotr IX deficiency. Severe deficiency of factor IX clotting activity is associated with spontaneous joint or deep tissue bleeding. Moderate or mild deficiency is associated with prolonged bleeding after tooth extractions, surgery, or injuries and recurrent or delayed wound healing.
Haemophilia B is caused by defects in the F9 gene and has a world-wide incidence of approximately 1 in 25000 live male births.
Related condition or disease: 
Severe Haemophilia B
Moderate Haemophilia B
Mild Haemophilia B
Haemophilia B Leydon
Haemophilia B carrier (females)

Potential differential diagnosis:
Vitamin K deficiency.
Vitamin K-dependent clotting factor deficiency (VKCFD).
Reference range: 

n/a

Synonyms or keywords: 
F9 Haemophilia B Factor IX deficiency Christmas Disease X-linked bleeding
Units: 
n/a
Department: 
Haemostasis and Thrombosis Department
Location: 
St Thomas' Hospital
Sample type and Volume required: 
1 x Edta
Call in advance: 
no
Turnaround time: 
6 weeks
Criteria for acceptance / rejections of sample
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.
Laboratory: 
Molecular Haemostasis Laboratory at St Thomas'

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Last updated: 14/03/2017