Newborn Screening and Genetics

Webcast

Moderator: Gary Hoffman
Wisconsin State Laboratory of Hygiene Newborn Screening
Chair, APHL Quality Control/Quality Assurance Sub-Committee

Basics of Molecular Testing
Susan Tanksley, Ph.D, Texas Department of State Health Services

Dr. Tanksley provided an introduction to molecular testing focusing on the terminology and how this technology can be useful in detecting newborn screening disorders.

Pre-Analytic Issues Relating to Molecular Testing
Suzanne Cordovado, Ph.D., Centers for Disease Control and Prevention

Dr. Cordovado discussed issues relating to DNA extraction, contamination prevention, and laboratory design to accommodate molecular testing.

Webcast

Moderator: Gary Hoffman
Wisconsin State Laboratory of Hygiene Newborn Screening
Chair, APHL Quality Control/Quality Assurance Sub-Committee

Analytic Issues Relating to Molecular Testing
Michele Caggana, Sc.D., FACMG, New York State Department of Health

Dr. Caggana discussed issues relating to molecular method evaluation, routine quality assurance and control and troubleshooting.

 

Post-Analytic Issues Relating to Molecular Testing
Anne Comeau, Ph.D., UMASS Medical School

Dr. Comeau discussed issues relating to reporting of molecular results that will include reporting algorithms, report content and record keeping.