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CLSI NBS06

Newborn Blood Spot Screening for Severe Combined Immunodeficiency by Measurement of T-cell Receptor Excision Circles; Approved Guideline

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Organization: CLSI
Publication Date: 1 April 2013
Status: active
Page Count: 92
scope:

This guideline addresses the detection of severe combined immunodeficiency (SCID) by populationbased newborn screening (NBS) using dried blood spot (DBS) specimens. The guideline is intended to facilitate the incorporation of SCID NBS into the routine operation of existing NBS programs. Methodologically, it focuses on measuring T-cell receptor excision circles (TREC) in DBS by real-time quantitative PCRa (qPCR), the method in use by all NBS laboratories at the time of guideline publication. It also describes other qPCR methods for measuring TREC in DBS that may come into future use.

This guideline includes detailed information for laboratory practice including calibration, QC, and proficiency testing (PT). It also addresses program issues such as short-term follow-up (notification and tracking to establish or rule out a diagnosis). The guideline includes clinical and immunological background on SCID and other immunodeficiency disorders that may present with low or no TREC content in newborns. It draws heavily on the experience of the NBS programs that have already operationalized the TREC assay for population-based NBS. The document includes several appendixes that provide additional information important to the guideline. In particular, Appendix C includes the operational algorithms in use by four of the NBS programs conducting SCID NBS at the time this document development committee was convened. The guideline is primarily intended for use by NBS laboratory personnel, producers of laboratory products related to NBS, and those involved with oversight of NBS programs.

The guideline is limited to NBS applications. It discusses, but does not detail, the methods used in diagnostic laboratory tests for immune deficiencies on whole blood, including immunophenotyping by flow cytometry (addressed in CLSI document H42)20 and lymphocyte function assays (some of which are addressed in CLSI document I/LA26).21 It does not discuss blood spot collection for NBS, which is the subject of a separate guideline (see CLSI document LA04).22 While the document includes general guidelines for short- and long-term follow-up, the knowledge base for assessing sensitivity, specificity, and predictive value is not yet sufficient to express accurate quantitative values for these parameters. These parameters will be revisited in future editions of this guideline.

a Absolute quantitative PCR refers to qPCR assays that incorporate calibrator reference materials having values assigned in absolute copy numbers, as contrasted to calibration in relative (proportionate) values. Because the term absolute may be misinterpreted to mean independent of any calibrator reference material, it will not be used in the remaining sections of this guideline.

Document History

CLSI NBS06
April 1, 2013
Newborn Blood Spot Screening for Severe Combined Immunodeficiency by Measurement of T-cell Receptor Excision Circles; Approved Guideline
This guideline addresses the detection of severe combined immunodeficiency (SCID) by populationbased newborn screening (NBS) using dried blood spot (DBS) specimens. The guideline is intended to...

References

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