The study of blood cells offers highly relevant information in the diagnosis, treatment and prevention of many diseases.

We can suspect a blood disease in the presence of symptoms such as dizziness, headaches, fatigue, continuous respiratory or skin infections, or bruising with no apparent cause.

Genetic studies let you know if you have inherited any of these blood diseases such as coagulation disorders that can cause severe bleeding, even compromising the health of those who are affected.

Facing a scratch, cut or wound it is essential that the components of the blood are present and work properly to start the coagulation cascade that prevents bleeding. The process is aimed at forming a clot to prevent blood loss while repairing the damaged vessel.

If there is any alteration and repair mechanisms fail, it will appear spontaneous nose and gum bleeding, excessive and prolongated bleeding from a wound, or internal bleeding that manifests as frequent bruising. Excessive clotting may also occur favoring the onset of thrombus, with the danger that this entails if they detach and travel through the bloodstream.

Hemophilias are the most well-known inherited bleeding disorder, however, there are others much less common or rares such as Bernard-Soulier syndrome, congenital afibrinogenemia, hereditary angioedema or Quebec platelet disorder.

Genetic variations involved in the development of hematologic diseases have been identified in more than 200 genes. There are numerous genetic tests available that quickly help diagnosis, allowing to examine the most appropriate treatment, and improving the prognosis of the disease.

Types of genetic tests in hematology


Clotting defects can have serious consequences. The genetic study allows the molecular diagnosis of many of them: thrombophilia, thrombocytopenia, hereditary hemorrhagic telangiectasia, Hermansky-Pudlak syndrome, platelet disorders, etc.



The clinical presentation of hematologic diseases is highly variable and depends on the population of affected blood cells (red blood cells, leukocytes, platelets…), which can cause severe anemias, immunosuppression or risk of cancer. These tests detect specific disorders such as: hemophagocytic lymphohistiocytosis, Seckel syndrome, Fanconi anemia, Diamond-Blackfan anemia, dyskeratosis congenita, as well as other types of anemias, such as alpha and beta thalassemias, sickle cell disease, spherocytosis, and megaloblastic anemia.



Predisposition to developing blood neoplasms such as leukemias can also be detected by a panel of genes. Identifying the genetic defect underlying your condition not only lets you to know the type of inheritance and treatment options but also to identify other relatives at risk.



Direct search for mutations associated with genetic blood disorders. These tests are intended for individuals who know that a direct family member has a mutation that causes a hematologic disease and want to know if they are carriers of that disease.


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