Children are not simply smaller versions of adult patients, yet many laboratory tests used in pediatric care were originally validated in adult populations. Because children’s biology changes significantly across developmental stages, adult-based reference intervals and interpretation frameworks do not always translate cleanly to pediatric patients, particularly in complex areas such as rare disease and cancer diagnostics.
To address those gaps, Labcorp and Children's Hospital of Philadelphia (CHOP) announced a strategic collaboration aimed at accelerating the development and nationwide availability of specialized pediatric diagnostics.
Announced last month, the initiative combines CHOP’s pediatric research and clinical expertise with Labcorp’s national infrastructure and commercialization capabilities. The effort will focus on expanding access to advanced pediatric testing in areas including oncology, metabolic disease, autoimmune disorders, and rare disease.
Scaling pediatric diagnostics beyond specialized centers
At the center of the collaboration is a joint innovation pipeline intended to move pediatric diagnostic assays from development into broader clinical use more efficiently.
“I think about this collaboration as having a lot to do with scale,” says Stephen R. Master, MD, PhD, division chief and director of metabolic and advanced diagnostics at CHOP. “It allows us to use Labcorp’s infrastructure for transporting samples from across the country and combine that with CHOP’s expertise to expand access to our specialized diagnostics.”
“We’re really talking about a different set of disease entities,” says Master. He pointed to pediatric cancer as one example, where disease biology can differ significantly from adult presentations and require distinct diagnostic approaches.
Master says the organizations will remain operationally independent while collaborating on selected pediatric diagnostic initiatives.
“We remain independent laboratories while combining the strengths of both groups,” he says. “We’re asking how we can marry that national network with our capabilities to do something for children that we couldn’t do separately.”
The collaboration is fundamentally about scale and access, aimed at supporting earlier and more precise diagnosis in pediatric patients.
CHOP’s N-glycan assay helped spark the collaboration
According to Master, discussions between the organizations initially began around CHOP’s N-glycan assay for congenital disorders of glycosylation (CDGs), a rare group of inherited metabolic diseases.
The assay evaluates glycan structures to detect abnormalities in protein glycosylation and is used as part of the diagnostic workup for suspected CDGs.
“The conversations started a few years ago with our N-glycan assay and its potential value for both CHOP and Labcorp,” Master says.
At CHOP, the assay has been part of a specialized diagnostic offering for rare metabolic disease. Through the collaboration, the goal is to expand access nationally by pairing CHOP’s disease-specific testing expertise with Labcorp’s infrastructure for high-volume sample intake, transport, and reporting.
“We realized more and more the scope of what we could accomplish together, and the ways in which we could really maximize child health through expanded access,” Master says.
The N-glycan assay is expected to launch within Labcorp’s testing infrastructure later this year.
Redefining the diagnostics model
The collaboration also highlights the growing role partnerships may play in translating specialized lab assays into scalable clinical diagnostics.
“It is not an easy thing to take an assay and develop it into something that can be validated in a CLIA lab,” Master says. “We spent a lot of time focusing on that and are glad to have partners at Labcorp who understand that complexity as well.”
Master said medical laboratory scientists have been central to both organizations’ work, from assay development and validation through high-volume clinical implementation.
While this collaboration is currently focused on pediatric diagnostics, it may also serve as a broader model for future partnerships between academic medical centers and national reference laboratories.
“I do see a lot of value in academic medical centers that are advancing patient care working with outside reference labs to find ways to scale that work,” Master says.
For now, the goal is to shorten the path from assay development to real-world clinical use—bringing advanced diagnostics to more children sooner, particularly in areas where earlier and more precise diagnoses can significantly affect outcomes.
“This collaboration is really the best of both worlds,” Master says. “The more we spoke, the more we realized the scope of what we could accomplish together, and the ways in which we could really maximize child health and access. It’s evolving in a number of directions that will unfold over the next year or so.”
