Prothrombin Gene Mutation (G20210A)
Clinical Background:
Prothrombin G20210A is a variant form of human factor II that is associated with an increased risk of thrombosis. Due to the mutation, in which guanine is replaced with adenine at position 20210 of...
Prothrombin G20210A is a variant form of human factor II that is associated with an increased risk of thrombosis. Due to the mutation, in which guanine is replaced with adenine at position 20210 of the Prothrombin gene increased levels of plasma prothrombin are seen, resulting in an increased thrombotic risk.
Most individuals do not suffer thrombosis in their lifetime, but there is a proven link to increased risk
Test Details
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Discipline:
Haemostasis
Haemostasis
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Specimen Container Adult:
Light blue- sodium citrate
Light blue- sodium citrate
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Specimen Container Paediatric:
Light blue- sodium citrate (semi transparent cap)
Light blue- sodium citrate (semi transparent cap)
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Minimum Volume Adult:
Single whole blood sample
Single whole blood sample
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Minimum Volume Paediatric:
Single whole blood sample
Single whole blood sample
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Sample Stability:
7 days @ 4°C
7 days @ 4°C
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Transport Requirements:
Samples should be transported to the laboratory without delay
Samples should be transported to the laboratory without delay
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Freq Analysis:
Fortnightly or urgent as required
Fortnightly or urgent as required
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Add On Test:
tnu-tr.bloodsciencesadditions@nhs.net (external)
tnu-tr.bloodsciencesadditions@nhs.net (external)
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Quality Assurance:
UK NEQAS Blood Coagulation
UK NEQAS Blood Coagulation
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Reference Ranges:
Prevalence in Caucasian population 2%
Prevalence in patients presenting with DVT or PE 6%
...Read MorePrevalence in Caucasian population 2%
Prevalence in patients presenting with DVT or PE 6%
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Other Info:
Thrombotic risk
Heterozygote 2.5 fold increase
Homozygote 20 fold increase
Increased ri...
Read MoreThrombotic risk
Heterozygote 2.5 fold increase
Homozygote 20 fold increase
Increased risk of thrombosis in pregnancy
Heterozygotes show a 10 fold increased risk with Oestrogen containing oral contraception
Combined Prothrombin G20210A and Factor V Leiden (R506Q) mutations show a 15 fold increased thrombotic risk
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Routine Contact Name:
RVI or Freeman Section Leaders
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Routine Telephone:
RVI: 0191 2820332, Freeman: 0191 2231195
RVI: 0191 2820332, Freeman: 0191 2231195
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Routine Email:
paul.murphy4@nhs.net
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Haematology and Haemostasis Healthcare Scientist
Haematology and Haemostasis Healthcare Scientist
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Specialist Telephone:
0191 2139758
0191 2139758
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Specialist Email:
alison.brown93@nhs.net
alison.brown93@nhs.net