Human Biochemical Genetics

Factor V Leiden

Alternative name FVL
Sample tube EDTA whole blood (Sarstedt red top)
Sample volume 2ml (7.5ml tube)
Special requirements (for sample collection) None
Special requirements None
Turnaround time 2 weeks
Reference range N/A
Clinical application

Genetic test for the R506Q mutation in the factor v gene. (OMIM 227400) used to identify individuals at increased risk of venous thrombosis.

Heterozygotes have a 4-8 fold increase in risk of thrombosis, homozygotes for the mutation have a 80-100 fold increase in risk.

Other factors may further increase the risk.
Comments Analysed using LightCyclerTM  fluorescence hybridisation. We can also measure the prothrombin gene variant on the same sample.

Prothrombin Gene Variant II

Alternative names PGV, PGV II
Sample tube EDTA whole blood (Sarstedt red top)
Sample volume 2ml (7.5ml tube)
Special requirements (for sample collection) None
Special requirements None
Turnaround time 2-3 weeks
Reference range <2.0μmol/l
Clinical application

Detection of mutation in the factor II (prothrombin) gene, causing increased risk of thrombosis (OMIM 176930).

Heterozygotes have a 3-fold increase in risk for thrombosis, that for homozygotes has not been established but may be higher.

Other factors may further increase the risk.
Comments

Can be analysed together with Factor V Leiden. Analysed using LightCyclerTM fluorescence hybridisation.

 

Genetic Tests - Useful Links

UK Genetic Testing Network

https://ukgtn.nhs.uk/

Download the Molecular Testing Export Request Form:

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