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        Genomics Precision Diagnostic > Hematology Precision Panel

        Hematology Precision Panel

        Diagnostic test based on NGS of multiple genes associated to a disease, condition, or phenotype.

        Panels

        Hereditary Hemorrhagic Telangiectasia  Precision Panel

        Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu disease (OWRD) is a rare autosomal dominant disease that affects blood vessels throughout the body, causing a vascular dysplasia that leads to an increase tendency of bleeding.

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        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.

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        Von Willebrand Disease  Precision Panel

        Von Willebrand disease (VWD) is the most common inherited bleeding disorder with a heterogeneous clinical presentation and genetic background. The main feature relies on a deficiency or dysfunction of the protein named von Willebrand factor (vWF) resulting in an impaired primary homeostasis where platelets play a crucial role.

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        Hereditary Thrombophilias Precision Panel

        Hereditary Thrombophilias are states of hypercoagulability that increase the risk of patients to develop clots, venous thrombosis and arterial thrombosis. Out of these, venous thrombosis and pulmonary embolism carry the highest risk of morbidity and mortality. 

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        Hemophagocytic Lymphohistiocytosis Precision Panel

        Hemophagocytic Lymphohistiocytosis (HLH) is a condition where the organism produces too many activated immune cells (macrophages and lymphocytes), creating a state of uncontrolled hyperinflammatory response.

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        Congenital Afibrinogenemia Precision Panel

        Congenital fibrinogen disorders are a group of most frequent rare coagulation disorders, characterized by deficiency or defects in fibrinogen molecules. Congenital Afibrinogenemia is quantitative defect in fibrinogen resulting from mutations that affect plasma fibrinogen concentration and are frequently associated with a bleeding diathesis.

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        Bone Marrow Failure Syndromes Precision Panel

        Bone Marrow Failure Syndromes (BMFS) are a group of disorders where the ability of the bone marrow to carry out effective haematopoiesis is impaired, result of intrinsic stem cell/progenitor defects. They are a rare yet clinically relevant cause of neonatal haematological and non-haematological manifestations with an increased risk of malignancy.

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