This is a list of disorders included in newborn screening programs around the world, along with information on testing methodologies, disease incidence and rationale for being included in screening programs.
The following conditions and disorders were recommended as a "core panel" by the 2005 report of the American College of Medical Genetics (ACMG).
[2] Blood cell disorders Inborn errors of amino acid metabolism Inborn errors of organic acid metabolism Inborn errors of fatty acid metabolism Miscellaneous multisystem diseases Newborn screening by other methods than blood testing The following disorders are additional conditions that may be detected by screening.
Many of these are rare and unfamiliar to pediatricians and other primary health care professionals.
[1] Blood cell disorders Inborn errors of amino acid metabolism Inborn errors of organic acid metabolism Inborn errors of fatty acid metabolism Miscellaneous multisystem diseases In addition to identifying a core list of disorders that infants in the United States should be screened for, the ACMG also established a framework for nominating future conditions, and the structure under which those conditions should be considered.