Some patients with a Primary Immunodeficiency diagnosis may have a known gene defect, while others who have a Primary Immunodeficiency diagnosis may have an unidentified gene defect.
Today, there are new medical technological developments that can provide more specific answers to those without an exact diagnosis; this is where gene sequencing comes in.
Advancements in the understanding of gene sequencing have provided knowledge, hope, and relief to many families as they travel on the diagnostic odyssey; the journey to an official diagnosis that can oftentimes take years to obtain.
Gene sequencing gives researchers the ability to read the building blocks within a patient’s DNA. This, in turn, provides a vast amount of specific information about any given patient, as well as the opportunity to uncover the exact root of the problem. In the case of Primary Immunodeficiency patients, the exact gene responsible for their condition – and an official proper diagnosis.
With more than 400 different Primary Immunodeficiency defects already identified, and more being discovered, gene sequencing serves as the gold standard to help patients with an immunodeficiency discover their specific diagnosis earlier, allowing them to start the appropriate treatment earlier, and improving their quality of life quicker than previously done.