TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan.

Manabu WakamatsuDaiei KojimaHideki MuramatsuYusuke OkunoShinsuke KataokaFumiko NakamuraYoshimi SakaiIkuya TsugeTsuyoshi ItoKazuto UedaAkiko SaitoEiji MorihanaYasuhiko ItoNaoki OhashiMakito TanakaTaihei TanakaSeiji KojimaYoko NakajimaTetsuya ItoYoshiyuki Takahashi

Published in: Journal of clinical immunology (2022)

We performed the first large-scale TREC and TREC/KREC NBS programs in Japan. Our NBS programs followed by the diagnostic NGS analysis for newborns with abnormal TREC and/or KREC values are useful for the early identification and rapid molecular evaluation of not only SCID but also different non-SCID PIDs.

Keyphrases

public health
pregnant women
copy number
low birth weight
gene expression
cord blood
dna methylation
preterm infants
single molecule
genome wide