Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers
ObjectiveInborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting different components of the immune system. Over 450 IEI related genes have been identified, with new genes continually being recognized. This makes the early application of next-generation sequencing (NGS) as a diagnostic method in the evaluation of IEI a promising development. We aimed to provide an overview of the diagnostic yield and time to diagnosis in a cohort of patients suspected of IEI and evaluated by an NGS based IEI panel early in the diagnostic trajectory in a multicenter setting in the Neth... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2021 |
Reihe/Periodikum: | Frontiers in Immunology, Vol 12 (2021) |
Verlag/Hrsg.: |
Frontiers Media S.A.
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Schlagwörter: | next-generation sequencing / inborn errors of immunity / diagnostic yield / gene panel / clinical implication / Immunologic diseases. Allergy / RC581-607 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27017104 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://doi.org/10.3389/fimmu.2021.780134 |