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Newborn Screening and Genetics

2011 Newborn Screening Severe Combined Immune Deficiency (SCID) Webcast Series Conference Proceedings
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The Severe Combined Immune Deficiency Webcast Series examines the clinical background of SCID, use of the TREC assay, and implementation of SCID in four newborn screening programs.
Slide Presentations

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Part I- Wednesday, May 11, 2011

Moderator, Ken Pass, PhD
T-Cell Related Immunodeficiency Disorders 
Lisa Kobrynski, MD, MPH, Emory University  

Dr. Kobrynski provided an overview of SCID that focused on clinical manifestations as well as the diagnosis and treatment. Her presentation also included a review of other T cell lymphopenias that may be detected through newborn screening for SCID.        

Overview of SCID Testing
Carla, Cuthbert, PhD, FACMG, FCCMG, CDC Newborn Screening and Molecular Biology

Dr. Cuthbert discussed potential markers for SCID detection on newborn screening dried blood spots, including T-Cell Receptor Excision Circles (TREC) and other potential protein markers. She also discussed the Centers for Disease Control's (CDC's) role in implementing SCID testing which entailed assay development, quality control, and proficiency testing.

Part II- Wednesday, May 18, 2011 


Overview of Testing Algorithms

Bob Vogt, PhD, CDC Newborn Screening and Molecular Biology Branch

Dr. Vogt presented an overview of the current SCID testing methods used in newborn screening. The focus was on equipment, assay standardization and validation, routine quality assurance and control activities, cost considerations, and pilot proficiency testing activities at the CDC.

SCID Screening Program Summaries - SCID Laboratory Testing Experience

  • Jason Isabelle, New York State Department of Health
  • Four state screening programs provided an overview of their SCID screening experience including the history of testing, reporting algorithms, screening results, and unique experiences.           

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