The incidence of biotinidase deficiency has been reported as follows: profound biotinidase deficiency (<10% activity) 1 in 112,000, partial deficiency (10%–30% activity) 1 in 129,000, and profound and partial deficiency together 1 in 60,000*. Symptoms include seizure and possible skin disorders, followed by developmental delays, speech problems and possible vision and hearing difficulties. * Kaye, CI. and the Committee on Genetics (2006) Newborn Screening Fact Sheets. Pediatrics 118; 934-963. DOI: 10.1542/peds.2006-1783.

GSP Neonatal Biotinidase - the automated enzymatic/TRF assay

• First fully automatic assay for biotinidase deficiency screening
• Improved performance
• Combination of enzymatic and immunoassay
• All reagents ready to use (no need for reconstitution)
• No ethanol precipitation in the assay
• Pretreated paper for calibrators and controls to avoid lot-to-lot variation caused by the paper

The GSP Neonatal Biotinidase assay combines an enzyme reaction with a solid phase time-resolved immunofluorescence assay. The enzyme reaction is the cleavage by biotinidase of the amide bond in Eu-labeled biotin. The enzyme reaction is stopped by addition of streptavidin which has high affinity for biotin (either Eu-labeled or free biotin). The streptavidin-biotin complexes are captured by the solid phase monoclonal antibody directed against streptavidin. DELFIA® Inducer dissociates the molecules into the solution where the europium fluorescence is measured. The measured fluorescence is inversely proportional to the biotinidase activity of the sample.

All Revvity neonatal products may not be available in all countries.