Molecular Genetic Pathology In the Department of Pathology
 Superimposed probe dissociation curves of a factor V Leiden assay.
 Superimposed probe dissociation curves of a factor V Leiden assay. One individual (dark green line) is heterozygous for the R506Q (1691G>A) sequence variant. This result is associated with a 5-10 x increased risk of deep venous thrombosis. All others are negative.

Thrombosis Risk Factors

Thrombosis Risk Factors

Factor V Leiden:
Factor V Leiden is a DNA mutation which causes resistance to activated protein C (APC). It is the most common risk factor for thromboembolic disease. Mutation detection is performed by real-time PCR and target-specific probe dissociation analysis.

Prothrombin Mutation: Prothrombin variant 20210G>A is a risk factor for thromboembolic disease. Mutation detection is performed by real-time PCR and target-specific probe dissociation analysis.

Prothrombin Mutation: Prothrombin variant 20210G>A is a risk factor for thromboembolic disease. Mutation detection is performed by real-time PCR and target-specific probe dissociation analysis.

Hyperhomocysteinemia: The enzyme methylenetetrahydrofolate reductase (MTHFR) plays a critical role in homocysteine metabolism. Two common MTHFR polymorphisms may be risk factors for hyperhomocysteinemia in the setting of folate deficiency. The lab offers testing for two variants if plasma homocysteine levels are low. Mutation detection is performed by real-time PCR and target-specific probe dissociation analysis.

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