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Chromosome Abnormalities informational page from NHGRI
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NHGRI
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Advances in genetic research promise great strides in the diagnosis and treatment of many childhood diseases. However, emerging genetic technology often enables testing and screening before the development of definitive treatment or preventive measures. In these circumstances, careful consideration must be given to testing and screening of children to ensure that use of this technology promotes the best interest of the child. This statement reviews considerations for the use of genetic technology for newborn screening, carrier testing, and testing for susceptibility to late-onset conditions. Recommendations are made promoting informed participation by parents for newborn screening and limited use of carrier testing and testing for late-onset conditions in the pediatric population. Additional research and education in this developing area of medicine are encouraged. (From Their Website)
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AAP
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Genetic Testing in Children and Adolescents, Points to Consider
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ACMG/ASHG
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Completed in 2003, the Human Genome Project (HGP) was a 13-year project coordinated by the U.S. Department of Energy and the National Institutes of Health. During the early years of the HGP, the Wellcome Trust (U.K.) became a major partner; additional contributions came from Japan, France, Germany, China, and others. See our history page for more information. (From Their Website)
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U.S. Department of Energy Office of Science, Office of Biological and Environmental Research, Human Genome Program
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The Newborn Screening Branch, Division of Laboratory Sciences, operates the Newborn Screening Quality Assurance Program (NSQAP). NSQAP is a voluntary, non-regulatory program to help state health departments and their laboratories maintain and enhance the quality of test results. The program is operated in partnership with the Association of Public Health Laboratories. The program provides services to more than 73 domestic newborn screening laboratories, 29 manufacturers of diagnostic products, and laboratories in 58 countries. NSQAP has been the only comprehensive source of essential quality assurance services for dried-blood-spot testing for more than 29 years. (From Their Website)
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CDC
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The National Center on Birth Defects and Developmental Disabilities (NCBDDD) promotes the health of babies, children, and adults, and enhances the potential for full, productive living. Their work includes identifying the causes of and preventing birth defects and developmental disabilities, helping children to develop and reach their full potential, and promoting health and well-being among people of all ages with disabilities. (From Their Website)
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CDC
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Newborn screening has long been recognized as an essential, life-saving, and effective preventive public health service that has identified thousands of babies each year in the United States who are born with a genetic or metabolic disorder. In many cases, detecting these disorders spells the difference between life and death for these babies; in other instances, identifying newborns with a disorder means that they can be treated and thus not face life-long disability or cognitive impairment. Now, with the advent of new screening technology, babies can be tested—and treated— for many more disorders than was possible in the past. (From Their Website)
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CDC
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Newborn Screening information from MedLinePlus
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National Library of Medicine
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Statement on Universal Newborn Hearing Screening.
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ACMG
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Tandem Mass Spectrometry in Newborn Screening ACMG / ASHG statement
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ACMG
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