Application for Onsite Technical Assistance for Newborn Screening for New Disorders (SMA, MPS I, Pompe, and X-ALD)

Date: August 23, 2019

The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) can provide support to newborn screening laboratory and follow up staff to visit the Missouri, New York, and Wisconsin newborn screening programs to learn more information regarding the implementation of screening for Mucopolysaccharidosis Type I (MPS I), Pompe, X-linked Adrenoleukodystrophy (X-ALD), and/or Spinal Muscular Atrophy (SMA). This opportunity is available to all state newborn screening programs actively seeking to implement full population screening for at least one of the aforementioned new disorders.


The focus of the onsite technical assistance (TA) visit will vary based on your individual needs but may include a hands-on review of the intended methodology, as well as a discussion of the best practices, algorithms, protocols, and educational resources associated with implementing screening for new disorders. The summary of technical resources below will help you make the most of your visit. Please note that the duration of the onsite TA visit will be no longer than 1-2 days.


Summary of Technical Resources Offered by Missouri

  • Technical assistance for Lysosomal Storage Disorder (LSD) and SMA screening implementation
  • Site visits at the Missouri Newborn Screening Laboratory for observation of LSD and SMA screening
  • Testing method validation and screening implementation assistance for LSDs
  • Educational materials for LSD and SMA screening and follow-up implementation
  • Emergency preparedness planning for LSD screening continuity of operations purposes
  • Second Tier Testing using Digital Microfluidics for four LSDs (Pompe, MPS I, Fabry, and Gaucher) to assist in method validation, pilot and implementation phases


Summary of Technical Resources Offered by New York

·       Technical assistance using tandem mass spectrometry (MS/MS) and DNA sequencing (Sanger) technologies for Pompe, MPS I and X-ALD

·       Education regarding follow-up best practices and protocols for Pompe, MPS I, X-ALD and SMA

·       Technical assistance using Polymerase Chain Reaction (qPCR) assay for SMA screening


Summary of Technical Resources Offered by Wisconsin

·       Technical assistance for Pompe and SMA screening and follow-up implementation

·       Technical assistance regarding DNA Sequencing Analysis (Sanger)

·       Technical assistance using droplet digital PCR

·       Review of Pompe newborn screening educational materials for parents

·       Review of Pompe newborn screening materials for primary care providers


Application Process

If you are interested in this opportunity, please complete the Onsite Technical Application. If you have any questions, please contact Kshea Hale at Please note you will need an APHL account to access the application.