
Genetic testing
Genetic testing looks for variants in genes that are known to cause primary immunodeficiency (PI) and may fast-track your diagnosis.
Genetic testing looks for variants in genes that are known to cause primary immunodeficiency (PI) and may fast-track your diagnosis.
According to a Jeffrey Modell Foundation study of 119 patients with underlying PI, following a genetic test:
of patients received an updated clinical diagnosis.
of patients altered their disease management.
of patients had their treatment changed by their doctors.
This 2020 study published in Immunologic Research demonstrated the cost-efficiency, utility, and importance of genetic testing for patients when working with an expert physician.
There are currently two sponsored, no-charge genetic testing programs available for people who are suspected of having either APDS (activated PI3K delta syndrome) or chronic neutropenia/WHIM syndrome. Both programs include pre- and/or post-genetic counseling services that provide support to help your family better understand the testing process, what to anticipate in terms of results, and what information is needed by your physician.
Talk to your doctor to determine if you meet the criteria to qualify for either genetic testing program.
This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.
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