New Disorders Workgroup Winter Webinar Series Part One: Newborn Screening Considerations for Additional Lysosomal Disorders and GAMT

Date: January 21, 2021 2:00 pm EST

The Association of Public Health Laboratory (APHL) Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) is pleased to announce the first webinar in the New Disorders Workgroup Winter Webinar Series. This three-part webinar series will provide updates from programs screening for disorders not currently on the RUSP, both as pilot programs and as components of universal screening. This series will end with a discussion of future disorders, that have been nominated for review by the Advisory Committee on Heritable Disorders in Newborn and Children (ACHDNC) and/or are in current pilots.

This webinar will provide an overview of the lysosomal disorders and other metabolic disorders being screened for outside of the RUPS. Speakers will provide screening considerations and experiences for the lysosomal disorders that were previously nominated but not recommended for addition to the RUSP. These disorders include Fabry, Krabbe, and Niemann-Pick Disease. Speakers will also discuss screening considerations for additional lysosomal disorders and other disorders, including Mucopolysaccharidosis II (MPS II), Gaucher, and Guanidinoacetate Methyltransferase (GAMT). 


At the conclusion of the program, the participant will be able to:

  • Review screening considerations for Fabry, Krabbe, Niemann-Pick Disease, Gaucher, MPS II, and GAMT

  • Describe state experiences screening for these disorders

  • Examine screening methodologies and tiered testing options

  • Discuss follow-up processes and protocols and recommended practices


  • Jennifer Crew, PhD, Acting Newborn Screening Laboratory Section Chief, Illinois Department of Health

  • Joan Ehrhardt, MS, CGC, Genetic Counselor, Illinois Department of Health

  • Kim Hart, MS, LCGC, Program Manager, Utah Department of Health

  • Tracy Klug, Unit Chief, Newborn Screening, Missouri State Public Health Laboratory

  • Julie Raburn-Miller, MSW, LCSW, Genetics Program Coordinator, Missouri State Newborn Screening Program

Continuing Education

APHL is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E® Program, Florida and CPH recertification. P.A.C.E® is accepted by all licensure states except Florida. If approved, this webinar will provide 1.5 contact hour for participants who successfully complete this webinar.

The deadline to receive P.A.C.E for the archived webinar is January 22, 2022.

Link to archived webinar:

This resource is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under grant # U22MC24078. This information or content and conclusions are those of the authors and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the US Government.