New methodologies under review for three additional genetic disorders.
Cyprus is on track to significantly expand its universal newborn screening program by the end of 2026, introducing tests for three additional genetic conditions as part of a phased expansion to detect ten diseases at birth.
The Amerikos Argyriou Center for Preventive Paediatrics announced this week that laboratory teams have begun validating testing methodologies for galactosemia, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. This phase requires processing thousands of baseline samples to establish accurate local reference ranges and formalize clinical laboratory protocols before a pilot launch later this year.
The development stems from a 2022 Council of Ministers directive to scale up the island’s reactive health framework. Under the state-supported plan, the Ministry of Health oversees the national program, while execution is split between the Amerikos Argyriou Center and the Cyprus Institute of Neurology and Genetics.
To facilitate the expansion, the Center for Preventive Paediatrics independently spent over €140,000 on medical hardware and laboratory installations. Funding for the upgrade was secured through private corporate sponsorships and strategic philanthropic partnerships.
Dr. Argyris Argyriou, a paediatrician and president of the CPP, stated that the expansion of the program constitutes a "significant investment in public health." He added that the ambition, through the cooperation of all stakeholders, is for all newborns in the country to be screened for a total of ten diseases within 2026.
Medical authorities tied the timing of the announcement to recent updates from the International Society for Neonatal Screening. The organization's latest global framework emphasizes that early diagnostic intervention remains the most effective mechanism to prevent severe, irreversible complications from treatable congenital disorders.
Four decades of data
The Center has operated the national screening registry since 1989, testing every infant born in Cyprus for congenital hypothyroidism and phenylketonuria (PKU). To date, the program has evaluated more than 350,000 infants. In 2025 alone, the clinical team tested 9,491 newborns, a figure that covered the country's entire birth registry for that calendar year.
Historical data from the program outlines its long-term clinical footprint, during which 147 infants received immediate medical therapy for congenital hypothyroidism. While a separate group of suspected cases currently undergoes secondary clinical verification, the program has simultaneously identified various forms of metabolic disorders. This includes 19 children found to have hyperphenylalaninemia, three diagnosed with classic PKU, and seven identified with mild variants of the condition, allowing for early dietary management.
