Immunodeficiencies
OVERVIEW
Hereditary immunodeficiencies are the result of the inability of the immune system to effectively fight an infection by bacteria, viruses, fungi, and cancer cells. As a result, unusual bacterial, viral, or fungal infections or lymphomas or other cancers may develop. Primary immunodeficiencies are usually present at birth, while most become evident during infancy or childhood, others are not recognized until adulthood. There are more than 100 rare primary immunodeficiency disorders. Those are classified by affected component of the immune system: humoral immunity (involvement of B cells, a type of white blood cell that produces antibodies), cellular immunity (involvement of T cells, a type of white blood cell that helps identify and destroy foreign or abnormal cells), both humoral and cellular immunity (B cells and T cells) and phagocytes (cells that ingest and kill microorganisms). Alterations in B cells account for more than 50% of primary immunodeficiency disorders. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for immunodeficiency disorders. The test can offer a molecular genetic diagnosis of an immunodeficiency disorder that is observed or predicted in your child or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member has a risk of an immunodeficiency 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 recurrent
and severe infection
You/your child has a clinical diagnosis
for an immunodeficiency
You have a family history of
immunodeficiencies
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.
