Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA

• Main Authors: Cristina Gutierrez-Mateo (Author), Anne Timonen (Author), Katja Vaahtera (Author), Markku Jaakkola (Author), David M Hougaard (Author), Jonas Bybjerg-Grauholm (Author), Marie Baekvad-Hansen (Author), Dea Adamsen (Author), Galina Filippov (Author), Stephanie Dallaire (Author), David Goldfarb (Author), Daniel Schoener (Author), Rongcong Wu (Author)
• Format: Book
• Published: MDPI AG, 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 agammaglobulin...