Ontology highlight
ABSTRACT:
SUBMITTER: Gutierrez-Mateo C
PROVIDER: S-EPMC7510252 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Gutierrez-Mateo Cristina C Timonen Anne A Vaahtera Katja K Jaakkola Markku M Hougaard David M DM Bybjerg-Grauholm Jonas J Baekvad-Hansen Marie M Adamsen Dea D Filippov Galina G Dallaire Stephanie S Goldfarb David D Schoener Daniel D Wu Rongcong R
International journal of neonatal screening 20191102 4
Numerous studies have shown evidence supporting the benefits of universal newborn screening for primary immunodeficiencies (PID) and for Spinal Muscular Atrophy (SMA). We have developed a four-plex, real-time PCR assay to screen for Severe Combined Immune Deficiencies (SCID), X-linked agammaglobulinemia (XLA), and SMA in DNA extracted from a single 3.2 mm punch of a dried blood spot (DBS). A simple, high-throughput, semi-automated DNA extraction method was developed for a Janus liquid handler th ...[more]