|
Thrombophilia Genetic Screen
Hereditary Thrombophilia is a genetically determined increased likelihood of thrombosis. Deep vein thrombosis (DVT) is the most common manifestation and occurs in about 1/1000 individuals leading to frequent complications including pulmonary embolism. Other less usual presentations of thromboembolic disease include abdominal and cerebral vein thrombosis as well as placental vascular thrombosis leading to pregnancy loss and complications.
Thrombosis is caused by the production of a blood clot due to disruption of normal haemostasis by the interaction of
a ) Environmental and or Acquired conditions including surgery, trauma, obesity, immobility, oral
contraceptives, pregnancy, malignancy, inflammation, autoimmune disease and senility
b ) Mutation in one or more of the genes involved in the blood clotting mechanism;
- Factor V and Prothrombin genes are normally involved in the regulation of haemostasis
pathways (procoagulant). Once those genes are mutated the resulting abnormal proteins will enhance clot formation.
- Activated Protein C and Cofactor Protein S normally play a key role in preventing thrombosis(anticoagulant), but when those genes are mutated the resultant abnormal proteins are unable to prevent thrombosis leading to increased clot formation.
To date, molecular testing to detect abnormalities in the genes responsible for procoagulant and or anticoagulant factors is the best and most reliable method to:
1) Predict risk of thrombophelia. Patients with increased risk would receive preventative therapy thus reducing the occurrence of life threatening thromboembolic disease.
2 ) Influence duration of therapy during a thrombotic episode.
Al Borg Lab has recently introduced an assay for detection of 12 genes with 13 mutations involved in thrombosis by DNA extraction and PCR amplification of relevant gene sequence followed by hybridization using probes specific for detection of the normal and mutant alleles in each gene.
Please do not hesitate to contact us should your need further information.
|
