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.
CLSI NBS06-A
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Newborn Blood Spot Screening for Severe Combined Immunodeficiency by Measurement of T-cell Receptor Excision Circles; Approved Guideline, NBS06AE
Clinical and Laboratory Standards Institute , 04/01/2013