OVERVIEW
Hereditary blood disorders are caused by alterations in the production or function of components of the blood, such as red blood cells, white blood cells, or platelets. There are more than 20 million patients living with inherited blood disorders worldwide. Blood disorders can cause various symptoms, such as swelling and redness of extremities (poor blood clot), increased bleeding without significant injury (hemophilia), or pale skin and fatigue (anemia). Interestingly, blood disorders can show overlapping symptoms with other disorders, such as weakness and shortness of breath (in anemia) can occur in heart and lung disorders as well. Common blood disorders include hemophilia, which is caused by inability of blood clotting resulting in longer bleeding after an injury; beta thalassemia, which is caused by reduction of the production of hemoglobin leading to anemia; and sickle cell disease, in which an abnormality in the hemoglobin can cause blood cells to become rigid and sickle-shaped instead of their typical round shape. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for blood disorders. The test can offer a molecular genetic diagnosis of a blood disorder that is observed or predicted in you or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member has a risk of a blood disorder, identifying the cause can help to take actions to improve the outcome of the disorder. Additionally, family members can be informed and encouraged to also get tested. Our genetic counsellors can provide medical advice.
You/your child has a swelling and
redness and/or warmth of extremities
You/your child has increased bleeding
without significant injury
You/your child suffers often
from fatigue
You want to estimate
the risk of recurrence
POSSIBLE OUTCOMES OF THE TEST
A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.
