The workshop topics are listed below and those presentations with links have been authorized to be posted on this Web site. Duplication is not authorized without the express written permission of the authors.
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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
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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