Article
A 2020 update on the use of genetic testing for patients with primary immunodeficiency.
Expert review of clinical immunology - 1 Sept 2020
Chinn Ivan K, Orange Jordan S
Abstract excerpt
INTRODUCTION: Genetic testing of patients with clinically diagnosed or suspected primary immunodeficiencies (PIDs) constitutes standard of care. Choice of testing modality and patient attributes can impact the likelihood of securing a diagnosis. AREAS COVERED: Published diagnostic rates for gene panel testing, exome sequencing (WES), and whole genome sequencing are compared among cohorts identified within PubMed....
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