New Physician’s Reference Guide of Genetic Disorders
The Georgia Department of Public Health (DPH) Newborn Screening (NBS) program is legislatively mandated to provide early detection of inherited genetic disorders aimed to reduce morbidity and mortality attributed to these disorders.
The Physician’s Reference Guide of Genetic Disorders provides the most current information about the disorders all Georgia newborns are screened for after birth and prior to hospital discharge. Four new disorders were added to the state’s screening panel in 2019: Spinal Muscular Atrophy (SMA), X-Linked Adrenoleukodystrophy (X-ALD), Mucopolysaccharidosis I (MPSI) and Pompe disease. Screening for SMA and X-ALD has begun, and the Georgia Public Health Laboratory has started screening for MPSI and Pompe disease.
The Physician’s Reference Guide of Genetic Disorders can also be viewed on the DPH website: https://dph.georgia.gov/NBS/nbs-policies-and-procedures.
If you have any questions, please contact the NBS Program at (404) 657-4143.
Most babies appear healthy and show no signs of illness right after birth. However, some infants may be born with certain heritable diseases that can lead to disability or death. When detected early, many of these disorders can be managed and can prevent the occurrence of adverse health outcomes. The Georgia Newborn Screening (NBS) Program is designed to identify and provide early treatment for 31 selected inherited disorders that otherwise would cause significant morbidity or death.To view the complete list of disorders screened for in Georgia, please click here.
Obtaining Newborn Screening Results:
SendSS: State Electronic Notifiable Disease Surveillance System: Authorized providers can access unofficial copies of newborn screening results on-line through the State Electronic Notification Surveillance System (SendSS). To register for SendSS, visit https://sendss.state.ga.us/sendss/login.screen and fill out the online registration form.
eReports: Official results for newborn screens received after July 11, 2011 through the present can be retrieved by authorized medical providers through the eReports web portal located at https://ereports.ga.gov/dph/eReports/weblogin.aspx?MsgNum=0&Locale=1033. This web-based system enables registered providers to access screening test results 24 hours a day/7 days a week. To ensure confidentiality and security, a username and password is required to access the system.
American College of Medical Genetics (ACMG) developed ACTion (ACT) sheets for each NBS disorder that describe actions to be taken by the physician in the event of an abnormal screen. Click here to view Newborn Screening ACT sheets.
The Georgia Newborn Screening Program Policy and Procedure Manual provides information on the NBS program, screening procedures, and provider responsibilities. Click here for the provider responsibilities section.
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Decatur, GA 30033-4050
Phone: (404) 327-7950
Fax: (404) 327-7919