Inadequate pediatric reference ranges impede the diagnosis of X-linked hypophosphatemia and hypophosphatasia in Austria

Despite accurate absolute value measurements, the majority of laboratories failed to identify the test sample as pathologic. In a real-world setting, the results obtained could lead to significant diagnostic delays and missed diagnoses in pediatric patients. The lack of regulatory requirements for pediatric-specific reference ranges in Austria and most European countries contributes to this problem. The study highlights the need for standardization and mandatory implementation of pediatric reference ranges to improve diagnostic accuracy for rare pediatric disorders across Europe.