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Office of Newborn Screening

Additional Resources – Disorder Information

This index provides a listing of available resources related to newborn screening including guidelines, brochures and forms, process documents, and FAQs. The Arizona listing contains family centered resources, non-profits agencies serving infants with metabolic and genetic disorders, those who are deaf or hard of hearing, as well as intergovernmental agencies serving the special needs of families.

Disorder Information

  • Screening, Technology, and Research in Genetics (Star-G)
    A multi-state project to improve information about the financial, ethical, legal, and social issues surrounding expanded newborn screening and genetic testing. Fact sheets for parents about screened disorders are on their website.
  • Genetic Alliance
    A nonprofit health advocacy organization committed to transforming health through genetics. Their network includes more than 1,000 disease-specific advocacy organizations as well as universities, private companies, government agencies and public policy organizations. Their resource repository contains information on newborn screening as well as other topics in the area of genetics./li>
  • Genetics Home Reference
    Newborn screening disorder information from a website offering a guide to understanding genetic conditions from the U.S. National Library of Medicine within NIH, HHS.
  • Genetic Testing Electronic Quality Information Portal (GeT-EQuIP)
    From the Division of Laboratory Systems of CDC that provides a resource to facilitate information searches about genetic diseases detected through newborn screening.
  • MedlinePlus
    A service of the US National Library of Medicine and the National Institutes of Health that provides health information on a wide range of topics and in multiple languages. Newborn screening is one of the topics.
  • Family Village
    An on-line resource for parents of children with disabilities or chronic health conditions:
  • Medical Home Portal
    A service of the University of Utah and part of a Medical Home implementation project to improve care of children with chronic conditions.
  • PerkinElmer Genetics
    A service of PerkinElmer, provider of newborn screening testing kits, instruments and reagents.
  • March of Dimes (MOD)
    A non-profit organization advocating pregnancy and baby health (preventing birth defects, premature birth and infant mortality) and universal newborn screening.
  • National Organization for Rare Disorders (NORD)
    Maintains a database of rare diseases.
  • Online Mendelian Inheritance in Man (OMIM)
    A database of the Johns Hopkins University housed on the NCBI website that provides information on human genes and genetic phenotypes along with links to other genetics resources.