The role of genomic approaches in diagnosis and management of primary immunodeficiency

Purpose of review Genetic testing serves an increasingly important role in the diagnosis and management of primary immunodeficiency. In this review, the strengths and limitations of various genetic testing methods are summarized, providing a foundation for the clinical approach to achieving a molecular diagnosis. Recent findings Rapid advances in sequencing technology have enabled the incorporation of comprehensive genetic testing into first-line clinical diagnostics. Recent articles enable comparisons of the diagnostic utility of new testing strategies while simultaneously reminding clinicians of the strengths of traditional methods. Summary Genetic testing in primary immunodeficiency cannot be standardized, but instead needs to be personalized based on the presenting phenotype an...

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