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THROMBO inCode® is a genetic test for the diagnosis of hereditary thrombophilia and for assessing the patient's risk of thrombosis.

Genetics contributes about 50% to the development of a venous thromboembolic event and interacts with several transient factors that can increase the risk of thrombosis. It is therefore important to investigate the thrombophilic profile of patients with a personal and family history of thrombosis in order to tailor their treatment and take preventive measures if necessary.

THROMBO inCode® diagnoses hereditary thrombophilia thanks to its validated panel of genetic variants, and incorporates the patient’s genetic and clinical information into an algorithm to assess their risk of venous thromboembolism, providing results and clinically useful recommendations for therapeutic management.

Genes/variants analysed and technology

THROMBO inCode® analyses 12 Single Nucleotide Polymorphism (SNPs) variants in 7 genes, identified in genome-wide association studies (GWAS).
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They are associated with inherited thrombophilia and have a causal and functional effect on the mechanisms involved in blood coagulation. They are grouped in a panel whose diagnostic value has been scientifically validated.

Patient Profiles

  • Patients with a personal background of venous thromboembolism
  • Patients with a family history of venous thromboembolism who are going to be subjected to prothrombotic risk situations
  • Relatives of individuals in whom specific thrombophilic variants have been identified (family study)
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Information

THORMBO inCode® has proven to have a greater diagnostic capacity, with a statistically significant difference, in comparison with the Factor V Leiden and Prothrombin variants. It has been recognized as the “gold standard” in publications of reference for thrombosis risk assessment.

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In addition to diagnosing hereditary thrombophilia, the algorithm that combines the patient’s genetic information with their clinical factors makes it possible to determine how likely they are to develop a thromboembolism in different risk situations.

Numerous scientific articles published in prestigious national and international journals have been written about THROMBO inCode®:

 

  • Soria JM, et al. Multilocus Genetic Risk Scores for Venous Thromboembolism Risk Assessment. J Am Heart Assoc. 2014;3(5):e001060
  • Rubio-Terrés C, et al. Economic Analysis of Thrombo inCode, a Clinical–Genetic Function for Assessing the Risk of Venous Thromboembolism. Appl Health Econ Health Policy. 2015 Apr;13(2):233-42
  • Dobnic F et al. Guía de práctica clínica para la prevención, diagnóstico y tratamiento de la enfermedad tromboembólica venosa en el deporte. Apunts Med Esport 2015;50(188):147-159
  • Muñoz Marin AJ et al. Multivariable clinical-genetic risk model for predicting venous thromboembolism events in patients with cancer. British Journal of Cancer 2018;118:1056-1061
  • McInnes G. Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges. Human Mutation. 2019;40:1314–1320
  • Salas E. et al. Predictive Ability of a Clinical-Genetic Risk Score for Venous Thromboembolism in Northern and Southern European Populations. TH Open 2021;5:e303–e311.
  • Soria JM et al. “A validated clinical-genetic score for assessing the risk of thrombosis in patients with COVID-19 receiving thromboprophylaxis”.Haematologica 2022 May 12. doi: 10.3324/haematol.2022.281068.
  • Muñoz et al. A Clinical-Genetic Risk Score for Predicting Cancer Associated Thrombosis: a development and validation study involving two independent prospective cohorts. J Clin Oncol 2023. DOI https://doi.org/10.1200/JCO.22.00255