Krabbe Disease

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The Georgia Newborn Screening (NBS) program screens for more than 35 primary conditions including Krabbe disease. Newborn screening bloodspot specimens that are collected in county health departments, birthing facilities, hospitals, or providers’ offices will be tested for the full panel of NBS disorders, including Krabbe disease.

Krabbe disease is a very rare inherited disorder that can cause severe neurological problems or even death. In the spring of 2017, the Georgia General Assembly mandated parents be made aware of their option to have their newborns screened for Krabbe disease shortly after birth. In 2021, the passing of House Bill 567, authorized the Georgia Department of Public Health (DPH) to begin screening for Krabbe disease at the Georgia Public Health Laboratory as part of a three-year pilot.

Follow-up and Support for Families: The NBS program has partnered with Emory University Department of Human Genetics to conduct follow-up for infants with presumptive positive newborn screens for Krabbe disease. If a newborn has a presumptive positive newborn screening result for Krabbe disease, the newborn’s primary care provider and Emory University Department of Human Genetics will be notified to coordinate confirmatory testing and treatment following a positive diagnosis.

For more information contact the NBS Short-term Follow-up Program:
404.778.8560

 

 

Last revision update 11/15/2021