Unprovoked venous thrombosis (including in pregnancy) occurring before the age of 40, confirmed by imaging and following consultation with a Haemophilia or Thrombosis Centre Consultant Haematologist, AND ONE OR MORE OF
- Family history of thrombotic events before the age of 40, OR
- Consanguineous parents, OR
- Syndromic features, OR
- Early onset severe childhood / adolescence cases before the age of 25 with multiple independent unprovoked thrombotic events, OR
- Unexplained (mutation negative) deficiency of an Antithrombin [SERPINC1], Protein C [PROC] or Protein S [PROS1]
Abnormality on thrombophilia testing that would explain the phenotype ‘Acquired thrombotic disorders’ including
- Anti-phospholipid antibodies (anti-beta2-glycoprotein I), including during pregnancy
- Thrombotic event occuring after trauma/surgical challenge
Prior genetic testing guidance
– Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
– Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Prior genetic testing genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
- SERPINC1, PROC, PROS1, SERPIND1, HRG, PLG, THBD, PLAT
These requirements will be kept under continual review during the main programme and may be subject to change.
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