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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Carbamoyl phosphate synthetase 1 deficiency


Other Names for this Disease
  • Carbamyl phosphate synthetase (CPS) deficiency
  • CPS 1 deficiency
  • Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
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Tests & Diagnosis

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Testing

  • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.

Newborn Screening

  • The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.