Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in Pakistan.

Objective: To determine the reference interval of biotinidase activity in healthy neonates.

Methods: The cross-sectional study was conducted at the Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan, from May to November 2019, and comprised blood samples collected from healthy neonates aged 2-6 days. The samples were collected on filter paper and analysed on genetic screening processor based on dissociation-enhanced lanthanide flouroimmunoassay.