Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles

All newborn screening programs screen for severe combined immunodeficiency by measurement of T-cell receptor excision circles (TRECs). Herein, we report our experience of reporting TREC assay results as multiple of the median (MoM) rather than using conventional copy numbers. This modification simpl...

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Bibliographic Details
Published in:International journal of neonatal screening 2021-07, Vol.7 (3), p.43
Main Authors: Cogley, Michael F., Wiberley-Bradford, Amy E., Mochal, Sean T., Dawe, Sandra J., Piro, Zachary D., Baker, Mei W.
Format: Article
Language:English
Subjects:
Age
Health care
Immune system
Laboratories
Medical screening
multiple of the median
Newborn babies
newborn screening
Plasmids
severe combined immunodeficiency
T-cell receptor excision circles
Thymus gland
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Summary:All newborn screening programs screen for severe combined immunodeficiency by measurement of T-cell receptor excision circles (TRECs). Herein, we report our experience of reporting TREC assay results as multiple of the median (MoM) rather than using conventional copy numbers. This modification simplifies the assay by eliminating the need for standards with known TREC copy numbers. Furthermore, since MoM is a measure of how far an individual test result deviates from the median, it allows normalization of TREC assay data from different laboratories, so that individual test results can be compared regardless of the particular method, assay, or reagents used.
ISSN:2409-515X
2409-515X
DOI:10.3390/ijns7030043