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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Homocystinuria


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Tests & Diagnosis

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Newborn Screening

  • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.