The South Carolina Department of Public Health (DPH) has added two additional tests to its Newborn Screening Program—Hunter Syndrome and Fabry Disease. With this addition, the program now tests for 60 birth disorders.
Hunter syndrome, formally known as Mucopolysaccharidosis Type II, is an inherited condition in which the body cannot break down certain complex sugars. Without early treatment the disease can cause serious or irreversible organ damage.
Fabry disease is an inherited condition in which the body cannot properly process certain fats. This can increase risk of heart attack, stroke and kidney disease.
To better detect these conditions, DPH has partnered with biotech company Revvity to implement a new electronic test ordering and reporting system at all of the state's birthing centers. This will be done in phases starting early next year through 2030.
“Transitioning from paper forms to electronic reporting will allow us to increase efficiency and accuracy in our newborn screening efforts,” said Dr. Beth Bair, Director of DPH’s Newborn Screening Program. “This is just one more step to modernize our program and ensure that we are continually finding ways to improve services that benefit South Carolinians.”
According to the agency, 4.3% of specimens arrived at the laboratory with missing information in 2024 and 1,062 reports required adjustments to errors. Annually, DPH provides screening for 60,000 children born in South Carolina.
For more information about newborn screening, visit DPH’s Newborn Screening webpage.
