NOTICE: We are continuing to provide all of our genetic testing during the COVID-19 pandemic, but the reporting times for some of our tests may be slower than usual. This delay could be due to three reasons:
laboratory resources being directed to testing for COVID-19
fewer interstate flights for shipping samples
a backlog of tests as restrictions on elective surgery and procedures are lifted
We apologise for any delay in reporting your genetic test result.
If you have any concerns about this, please speak with the doctor who ordered your genetic test.
A specific mutation in the prothrombin gene (F2) places a person at increased risk of venous thrombosis. This predisposition is inherited as an autosomal dominant disorder.
The presence of one mutated F2 gene increases the risk of venous thrombosis by 2-5-fold. There is dispute regarding the clinical utility of this information in an unaffected patient, or in the management of an affected patient. The presence of two mutated F2 genes is associated with much higher risk of venous thrombosis; the recurrence risk is presumably increased as well.
This is an assay for heritable variants which can alter the probability that a person will develop a disorder. The test result is not, in isolation, diagnostic of a disease and the test result is not necessarily clinically significant for the patient's relatives.
Analysis of F2 gene for the 20210G>A (c.*97G>A) variant.
Requesting the test
This test can be requested by any medical practitioner.
4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare collection centre (see link below).
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We recommend that the patient or another adult check the labelling of request forms and sample tubes.