Hereditary Hemorrhagic Telangiectasia Precision Panel – 6 genes
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.
Inherited Thrombocytopenia Precision Panel – 324 genes
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.
Von Willebrand Disease Precision Panel – 8 genes
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.
Hereditary Thrombophilias Precision Panel – 17 genes
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.
Hemophagocytic Lymphohistiocytosis Precision Panel – 18 genes
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.
Congenital Afibrinogenemia Precision Panel – 3 genes
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.
Bone Marrow Failure Syndromes Precision Panel – 177 genes
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.
Fanconi Anemia Precision Panel – 22 genes
Fanconi Anemia (FA) is an inherited bone marrow failure syndrome featuring pancytopenia, predisposition to malignancy and characteristic physical abnormalities such as short stature, developmental delay, thumb abnormalities, among others.