Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next generation sequencing (NGS) with an amplicon based targeted gene panel using the...

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Bibliographic Details
Main Authors: Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, Emma Lundman, Mona C. Berge, Anette K. Trømborg, Linda K. Sørgjerd, Mari Ytre-Arne, Silje Hogner, Ruth Halsne, Hege Junita Gaup, Liv T. Osnes, Grete A. B. Kro, Hanne S. Sorte, Lars Mørkrid, Alexander D. Rowe, Trine Tangeraas, Jens V. Jørgensen, Charlotte Alme, Trude E. H. Bjørndalen, Arild E. Rønnestad, Astri M. Lang, Terje Rootwelt, Jochen Buechner, Torstein Øverland, Tore G. Abrahamsen, Rolf D. Pettersen, Asbjørg Stray-Pedersen
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Immunology
Subjects:
SCID - severe combined immunodeficiency
newborn SCID screening
NGS - next generation sequencing
severe T-cell immunodeficiency
TREC analysis
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2020.01417/full

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https://www.frontiersin.org/article/10.3389/fimmu.2020.01417/full

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