Thrombophilia with a likely monogenic cause (R97)

Requires patient informed consent

Sample Reqs

A A

Turnaround

12 weeks

Special instructions

Clinical synopsis, levels of relevant proteins, thrombosis history, family history and informed consent required. Please contact the laboratory if further guidance is needed on what to include on the request form.

Sample type guide

Lavender Vacutainer, EDTA anticoagulant, 4ml/10ml(10ml EDTA tubes are used for specific PCR assays)

Test details

This custom gene panel for thrombophilia with a likely monogenic cause can be used to help inform the understanding of patients’ clinical and laboratory phenotypes, and of their disorder in general. The genes in the panel have been selected in conjunction with consulting clinicians and Genomics England (NHS Genomics R97 Thrombophilia with likely monogenic cause).

This test should be requested following consultation with a Consultant Haematologist. Testing should typically be targeted at those with venous thromboembolic disease at less than 40 years of age, with no or weak provoking factors. Testing should only be used where it will impact on clinical management.

Examples of the disorders covered:

Antithrombin deficiency
Dysfibrinogenaemia
Hereditary Thrombotic Thrombocytopenic Purpura
Plasminogen deficiency Protein C deficiency
Protein S deficiency
Thrombophilia due to thrombomodulin defect

Genetic variants are interpreted and reported in line with ACGS/ACMG guidelines, and reports are issued following discussion and authorisation by Clinical Scientists and Consultant Haematologists.

Please complete the Haemophilia and Thrombosis Request for Genetic Status request form, including patient identifiers, relevant protein levels, clinical synopsis, thrombosis history, family tree with affected relatives labelled, and sign the box to confirm documentation of consent. The second page of the request form includes guidance for completing a family tree. Samples are unable to be processed without indication that patient informed consent has been given, a clinical synopsis including relevant coagulation levels and thrombosis and family history.