Hematology
Most hematological disorders have a known genetic component, so genetic diagnosis allows a differential analysis to determine the disease presented by these patients.
Home » Hematology
Clinical areas
Broader studies
Documentation
- EDTA blood (1x 5 ml)
- Saliva (specific Isohelix kit)
- Buccal exudate (2x sterile isopes)
- gDNA (>30 ng/μl in >100 μl TE buffer)
Remember to label each sample with the patient's first and last name or with the identifier used on the request form.
Haemorrhagic disorders
Bleeding disorders are abnormalities in blood clotting proteins that can lead to bleeding either spontaneously or after surgery or injury. The most common coagulation disorders are haemophilia and von Willebrand's disease. We offer the study of these pathologies, as well as an extended panel that includes the analysis of less frequent coagulopathies, such as coagulation factor V, VII and X deficiencies.
Studies included
DG Bleeding Disorder (3 genes)
DG Extended Bleeding Disorder (31 genes)
Haemophilia A intron 22 inversion (1 gene)
Haemophilia A (1 gene)
Haemophilia B (1 gene)
F9.
von Willebrand disease (2 genes)
Familial Dysfibrinogenemia (3 genes)
Hemorrhagic Telangiectasia (4 genes)
ACVRL1, ENG, GDF2, SMAD4.
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Platelet dysfunction
Platelet disorders refer to a group of diseases characterised by alterations in the production and function of platelets, cell fragments whose role is essential for proper blood clotting. We offer panels for both platelet dysfunction disorders, where there is an alteration in platelet function, and for diseases involving thrombocytopenia, i.e. a decrease in blood platelets.
Studies included
DG Platelet Disruption (53 genes)
Thrombocytopenia (52 genes)
Congenital amegakaryocytic thrombocytopenia (2 genes)
Hermansky-Pudlak syndrome (11 genes)
Bernard-Soulier syndrome (3 genes)
Glanzmann's thrombasthenia (2 genes)
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Thrombophilias
Thrombophilias are a heterogeneous group of diseases due to alterations in blood coagulation that predispose to blood clotting and increase the risk of thrombosis. We offer the study of hereditary thrombophilias due to alterations in Factor II of coagulation (prothrombin) and Factor V of Leiden, as well as an extended panel where other hereditary thrombophilias are studied, such as Factor IX of Padua or antithrombin deficiency.
Studies included
DG Thrombophilia (23 genes)
Thrombophilia Type I (Prothrombin) (1 gene)
Thrombophilia Type II (Factor V Leiden) (1 gene)
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Erythrocytosis
Erythrocytosis is defined as an increase in the number of red blood cells and thus in haemoglobin levels due to an increase in erythropoiesis. Through various studies we analyse different types of familial erythrocytosis as well as polycythaemia vera, a disease included in the differential diagnosis of erythrocytosis.
Studies included
DG Erythrocytosis (11 genes)
Familial Erythrocytosis (1 gene)
Secondary Congenital Erythrocytosis (8 genes)
Polycythaemia vera (1 gene)
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Anemias
Anaemias are a heterogeneous group of disorders characterised by a decrease in the number or size of red blood cells or their haemoglobin level. The different panels cover the study of the main hereditary anaemias such as sideroblastic anaemia, dyserythropoietic anaemia, aplastic anaemia and haemolytic anaemia.
Studies included
Sideroblastic anemia and other alterations of the heme group
DG Sideroblastic anaemia (18 genes)
Non-Syndromic Sideroblastic Anaemia (6 genes)
Syndromic Sideroblastic Anaemia (8 genes)
DG Porphyrias (10 genes)
Erythropoietic Protoporphyria (4 genes)
Dyserythropoietic anemia
DG Congenital Dyserythropoietic Anaemia (10 genes)
Aplastic anemia
DG Aplastic Anaemia (66 genes)
Fanconi anaemia (23 genes)
Diamond-Blackfan anaemia (22 genes)
Dyskeratosis Congenita (13 genes)
Shwachman-Diamond syndrome (4 genes)
Hemolytic anemia
DG Haemolytic anaemia (29 genes)
DG Erythrocyte membrane disruption (10 genes)
Hereditary Elliptocytosis (4 genes)
Hereditary Spherocytosis (5 genes)
Hereditary Stomatocytosis (4 genes)
DG Erythroenzymopathies (17 genes)
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Haemoglobinopathies
Haemoglobinopathies are diseases in which there is a defect in the synthesis of one or more of the globin chains that form haemoglobin, the protein responsible for transporting oxygen to the body's tissues. They are divided into thalassaemias, when there is a quantitative defect and one or more globin chains are not produced, or structural haemoglobinopathies, when the defect is qualitative. We provide panels for the study of the different types of thalassaemias and other types of haemoglobinopathies.
Studies included
Thalassemias
DG Thalassaemias (5 genes)
Alpha-thalassaemia (2 genes)
Beta-Thalassaemia (2 genes)
Beta-delta-thalassaemia (2 genes)
Sickle cell anaemia (1 gene)
Other haemoglobinopathies
DG Haemoglobinopathies (10 genes)
Fetal Haemoglobin Persistence Syndrome (3 genes)
Inherited methaemoglobinaemia (2 genes)
Toms River haemoglobinopathy (neonatal cyanosis) (1 gene)
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Iron metabolism defects
Diseases of iron metabolism are due to imbalances in the homeostasis of iron, an essential element for the organism. Since iron is essential for the proper functioning of hemoglobin, its deficiency leads to the development of hematological disorders such as anemia. We offer an expanded panel for the different iron metabolism diseases, as well as a specific panel for hemochromatosis, a disease characterized by high iron absorption, which accumulates until it damages the organs.
Studies included
DG Iron Metabolism (13 genes)
Haemochromatosis (1 gene)
Haemochromatosis Extended (6 genes)
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days