Inherited Thrombocytopenia Precision Panel
Inherited thrombocytopenia (IT) is a group of hereditary disorders characterized by a low platelet count typically less than 150,000/uL with variations depending on age, gender and ethnic background.
Overview
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Inherited thrombocytopenia (IT) is a group of hereditary disorders characterized by a low platelet count typically less than 150,000/uL with variations depending on age, gender and ethnic background. The main feature of these disorders results from a reduced platelet count often associated with an abnormal platelet function subsequently leading to impaired homeostasis. Severe inherited thrombocytopenias can present in the newborn period, whereas mild thrombocytopenias can remain undiagnosed until incidental detection on routine blood test during adulthood. Certain types of inherited thrombocytopenias carry a predisposition to acute myelogenous leukemia and/or myelodysplastic syndromes.
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The Igenomix Inherited Thrombocytopenia Telangiectasia Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of recurrent bleeding ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
Indication
- The Igenomix Inherited Thrombocytopenia Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Purpura
- Petechiae
- Prolonged bleeding from cuts
- Nosebleeds
- Gum bleeding
- Excessive bleeding after surgery
- Hemoptysis
- Hematuria
- Menorrhagia
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of routine screening for malignancies, medical therapy with antifibrinolytic agents, platelet transfusion and prevention of bleeding complications.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
- Identification of causative gene of inherited thrombocytopenias given the high degree of heterogeneity with various clinical presentations and prognoses.
References
Almazni, I., Stapley, R., & Morgan, N. V. (2019). Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding. Frontiers in cardiovascular medicine, 6, 80. https://doi.org/10.3389/fcvm.2019.00080
Galera, P., Dulau-Florea, A., & Calvo, K. R. (2019). Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia. International journal of laboratory hematology, 41 Suppl 1, 131–141. https://doi.org/10.1111/ijlh.12999
Nurden, A. T., & Nurden, P. (2020). Inherited thrombocytopenias: history, advances and perspectives. Haematologica, 105(8), 2004–2019. https://doi.org/10.3324/haematol.2019.233197
Savage, S. A., & Dufour, C. (2017). Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia. Seminars in hematology, 54(2), 105–114. https://doi.org/10.1053/j.seminhematol.2017.04.004
Baccini, V., & Alessi, M. C. (2016). Les thrombopénies constitutionnelles : démarche diagnostique [Diagnosis of inherited thrombocytopenia]. La Revue de medecine interne, 37(2), 117–126. https://doi.org/10.1016/j.revmed.2015.10.346
Noris, P., & Pecci, A. (2017). Hereditary thrombocytopenias: a growing list of disorders. Hematology. American Society of Hematology. Education Program, 2017(1), 385–399. https://doi.org/10.1182/asheducation-2017.1.385
