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As the panels are analyzing data from next-generation sequencing and deletion/duplication assays, this evaluation may need to be repeated when panels expand and include new relevant genes. Most of the commercial genetic testing is aiming for a panel of genes ranging anywhere from just a few to several hundred, so the specialist can feel comfortable clearly interpreting the data. Although genetic testing has not been a commonplace consideration in day-to-day practice for many nonacademic specialists, a shift toward adopting this into our standard toolkit should be taking place. Genetic testing for primary immunodeficiency has become much more convenient and affordable over the past decade allergist-immunologists in private practice are now able to offer patients high-quality and comprehensive genetic testing panels to help diagnose or characterize underlying immune abnormalities among patients with recurrent infections, and even patients with allergic disorder and noninfectious complications.
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Educational sessions and resources support the use of genetic testing in the diagnosis and management of primary immunodeficiency by both the American Academy of Allergy, Asthma & Immunology and the Clinical Immunology Society. Genetic testing is a state-of-the-art and readily accessible diagnostic tool and is increasingly indicated in the evaluation process when relevant and possible, although incorporation of this modality into the daily practice of allergists-immunologists in both academic and nonacademic or community settings is still a challenge.