VKORC1 mutation screen

Description
Analysis of the VKORC1 gene by PCR amplification and sequencing of the coding region and splice junctions.
Clinical details
Warfarin Resistance can be a significant clinical problem and may be due to drug, diet or compliance issues or may be genetic. The major cause of true hereditary warfarin resistance are mutations in the VKORC1 gene - polymorphisms in VKORC1 and cytochrome genes e.g. CYP2C9 may cause mild resistance. Analysis of VKORC1 is appropriate in patients showing significant resistance to warfarin dosing. Mutations in VKORC1 have also been associated with warfarin sensitivity.
Related condition
Reference range

n/a

Units
n/a
Synonyms
Vitamin K epoxide reductase complex subunit 1. VKORC1 Warfarin resistance Warfarin sensitivity
Testing site
Synnovis : Genomics : St Thomas' Hospital
Laboratory
Molecular Haemostasis
Sample type and volume required
1 x Edta
Call in advance
no
Storage and transport
transport at ambient temperature
Turnaround time
4 weeks
Contacts

Molecular Haemostasis Laboratory at St Thomas’ Hospital
Phone: 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

Last updated:

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