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    An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program.

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    Authors
    Blom, Maartje
    Pico-Knijnenburg, Ingrid
    Sijne-van Veen, Marja
    Boelen, Anita
    Bredius, Robbert G M
    van der Burg, Mirjam
    Schielen, Peter C J I
    Type
    Article
    Language
    en
    
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    Title
    An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program.
    Published in
    Clin Immunol 2017 ; 180:106-10
    Publiekssamenvatting
    Newborn screening of severe combined immunodeficiency through the detection of T-cell receptor excision circles will provide the opportunity of treating before the occurrence of life-threatening infections. With the EnLite Neonatal TREC assay (PerkinElmer) and end-point PCR, 39 samples (3.0%) of 1295 heel prick cards of the Dutch newborn screening program required a retest after initial analysis. After retest, 21 samples (1.62%) gave TREC levels below cut-off. A significant reduction in TREC levels was observed in heel prick cards stored for three months (n=33) and one year (n=33). Preterm newborns (n=155) showed significantly lower TREC levels and a higher retest-rate than full-term newborns. Peripheral blood spots of 22 confirmed SCID patients and 17 primary immunodeficiency patients showed undetectable or low TREC-levels. These findings suggest that the EnLite Neonatal TREC assay is a suitable method for SCID-screening in the Netherlands, thereby providing guidance in the decisions concerning implementation into the Dutch program.
    DOI
    10.1016/j.clim.2017.05.007
    PMID
    28487086
    URI
    http://hdl.handle.net/10029/621243
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.clim.2017.05.007
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