- Hematology
Most hematological disorders have a known genetic component, so genetic diagnosis allows a differential analysis to determine the disease presented by these patients, which is essential to establish early management and the most appropriate treatment in each case.
All genes included in each of our targeted exomes are clinically highly relevant and have been selected from information contained in reference databases such as OMIM, HGMD, ClinVar and HPO, and in the most recent scientific literature.
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
Sideroblastic anaemia and other haemoglobin group disorders
Dyserythropoietic anaemia
Aplastic Anaemia
Haemolytic anaemia
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
Thalassemias
Other haemoglobinopathies
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.
- EDTA blood (1x 5 ml)
- Saliva (specific Isohelix kit)
- Buccal exudate (2x sterile isopes)
- Isolated DNA (>30 ng/μl in >100 μl)
Remember to label each sample with the patient's first and last name or with the identifier used on the request form.
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
Sideroblastic anaemia and other haemoglobin group disorders
Dyserythropoietic anaemia
Aplastic Anaemia
Haemolytic anaemia
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
Thalassemias
Other haemoglobinopathies
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.
- Hematology
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
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.
Sideroblastic anaemia and other haemoglobin group disorders
Dyserythropoietic anaemia
Aplastic Anaemia
Haemolytic anaemia
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
Thalassemias
Other haemoglobinopathies
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
CHARACTERISTICS
- Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.