CLSI NBS06

Newborn Blood Spot Screening for Severe Combined Immunodeficiency by Measurement of T-cell Receptor Excision Circles, 1st Edition

This document addresses the detection of severe combined immunodeficiency (SCID) by population-based newborn screening using dried blood spot specimens to measure T-cell receptor excision circles. SCID is a lethal disorder of infancy that is not evident at birth, and effective treatment requires presymptomatic detection.

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Chairholder: W. Harry Hannon, PhD

Date of Publication: April 30, 2013

Order Code PDF: CLSI NBS06AE
ISBN Number: 1-56238-872-X

Order Code Print: print not available

Edition: First

Pages: 92

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This document was formerly sold under the code ILA36.

CLSI NBS06 Abstract

Severe combined immunodeficiency (SCID) is a congenital clinical disorder that is not evident at birth. Without treatment, most babies with SCID will die in infancy from virulent infection. This guideline addresses the detection of SCID by population-based newborn screening (NBS) using dried blood spot (DBS) specimens to measure T-cell receptor excision circles (TREC). Responding to recent US recommendations, the document is intended to facilitate the incorporation of SCID NBS into the routine operation of NBS programs worldwide. Based on extensive input from NBS laboratories, it describes the laboratory tests currently used to measure TREC in DBS by real-time quantitative PCR. The document also describes biological and clinical features of SCID and of other conditions potentially identified by SCID NBS. It provides an overview of laboratory operations including physical layout, instrumentation, TREC assay protocols, automated methodologies, and alternative platforms. The document includes a summary of diagnostic tests used for follow-up of abnormal TREC results as well as other short-term and long-term follow-up activities, including case tracking. It describes variants of SCID that may not be detected by TREC assays in newborn DBS. The guideline delineates the steps for implementing SCID NBS: validating the laboratory test, conducting pilot studies, and transitioning to routine screening. It is directed toward NBS laboratory personnel, public health program personnel, producers of laboratory products related to NBS, and those involved with oversight of NBS testing.