Clinical and Laboratory Standards Institute (CLSI), Wayne, Pa, has released NBS06-A-Newborn Blood Spot Screening for Severe Combined Immunodeficiency by Measurement of T-cell Receptor Excision Circles; Approved Guideline.
This document addresses its detection by population-based newborn screening (NBS), which uses dried blood spot (DBS) specimens to measure T-cell receptor excision circles (TREC).
TREC may be used to reveal the presence of SCID, and this presymptomatic detection is required for effective treatment.
This guideline, which is intended for use by NBS clinicians, laboratory personnel, producers of laboratory products related to NBS, and those involved with the oversight of NBS programs, facilitates the incorporation of SCID NBS into the routine operation of existing NBS programs.
NBS06 conveys detailed information for laboratory practice, including calibration, quality control, and proficiency testing. It also addresses program issues such as short-term follow-up (ie, notification and
tracking to establish or rule out a diagnosis).