Genes, Vol. 15, Pages 314: Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years

We describe our experience of optional NBS for severe PID and SMA in Osaka, Japan. A multiplex TaqMan qPCR assay was used for the optional NBS program. The assay was able to quantify the levels of T-cell receptor excision circles and kappa-deleting recombination excision circles, which is useful for severe combined immunodeficiency and B-cell deficiency screening, and can simultaneously detect the homozygous deletion of SMN1 exon 7, which is useful for NBS for SMA. In total, 105,419 newborns were eligible for the optional NBS program between 1 August 2020 and 31 August 2023. A case each of X-linked agammaglobulinemia and SMA were diagnosed through the optional NBS and treated at early stages (before symptoms appeared). Our results show how multiplex PCR-based NBS can benefit large-scale NBS implementation projects for new target diseases.

Source: Genes - February 28, 2024 Category: Genetics & Stem Cells Authors: Tomokazu Kimizu Masatoshi Nozaki Yousuke Okada Akihisa Sawada Misaki Morisaki Hiroshi Fujita Akemi Irie Keiko Matsuda Yuiko Hasegawa Eriko Nishi Nobuhiko Okamoto Masanobu Kawai Kohsuke Imai Yasuhiro Suzuki Kazuko Wada Nobuaki Mitsuda Shinobu Ida Tags: Article Source Type: research