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5116: Targeted Massively Parallel DNA Sequencing for Newborn Screening (NBS) for Proximal Urea Cycle Defects

Study Summary

The purpose of this study is to develop a laboratory method that can identify essentially all of the mutations that cause the proximal urea cycle disorders (UCDs) that can be adapted for use in newborn screening programs. The UCDs are N-acetylglutamate synthase (NAGS), carbamoylphosphate synthase (CPS) and ornithine transcarbamylase (OTC).

For Diseases:

This study will involve the following diseases:

  • N-acetylglutamate synthase (NAGS)
  • carbamoylphosphate synthase (CPS)
  • ornithine transcarbamylase (OTC)


Newborn screening (NBS) is one of the most successful public health programs of the 20th century. Despite of this success, several potentially treatable UCDs, including the most common, OTC, cannot be identified by current NBS technology. The work of the Urea Cycle Disorders Consortium (UCDC) has made it clear that interventions to prevent the first hyperammonemic episode are critical in protecting brain function and maximizing potential for normal neurological development in affected individuals. Thus, a sensitive and specific NBS approach to identify these UCDs is needed.

About this Study

This study is a laboratory method development study.

Who Can Join

This study will be conducted in a laboratory. No people will join this study.