Metabolic Screening

Newborns have been screened for metabolic and other inherited disorders in the U.S. since the early 1960s. Every state currently manages a program to screen newborns for inherited disorders at birth. However, some states include only a handful of disorders in its program, leaving thousands of newborns unscreened for a significant number of potentially manageable disorders each year.

One in 1,500 babies born is affected by an inherited disorder that can be detected through newborn screening. Screening, diagnosis, and intervention within the first days of life are essential because many of these disorders are manageable if treatment begins early.

StepOne®, our newborn screening service, determines a baby’s risk for more than 50 inherited disorders through an easily collected blood spot sample. A healthcare professional draws a small sample of blood by pricking the baby’s heel and places the sample on absorbent filter paper. After the sample dries, the filter paper is shipped to our laboratory for analysis. For additional information on the StepOne® process, visit specimen collection guidelines.

When the screening is complete, we contact the baby’s physician immediately by telephone if the results indicate the baby is at risk of any disorders included in our panel. If diagnostic testing confirms the presence of an inherited disorder, the baby’s physician can begin preventive treatment that may reduce or eliminate the health problems these disorders can cause.

Our laboratory provides newborn screening at various hospitals and contracted facilities at birthing centers located throughout the following locations:

  • District of Columbia 
  • Louisiana 
  • Maryland 
  • Mississippi 
  • Nebraska
  • Pennsylvania

In order to ensure your child will be screened, contact your physician prior to ordering a StepOne® screening packet.

Parents not giving birth at one of our hospitals or contracted facilities can purchase the StepOne® screening packet here or by calling one of our Client Service representatives at 412-220-2300 or 1-866-463-6436.