IRT neonatal Luminescence Immunoassay (2400 det.)

Luminescence Immunoassay for the in-vitro-diagnostic quantitative determination of immunoreactive trypsin (IRT) in human newborn blood spot samples. For neonatal screening of cystic fibrosis (CF). Cystic fibrosis (CF) is one of the most common autosomal recessive diseases caused by mutations in the CF transmembrane conductance regulator gene (CFTR). CF can result in death at an early age, primarily from progressive lung disease, although a number of organs are often involved. CF occurs at an incidence of approximately 1:2000 - 1:5000 live births in Europe and North America. The first European experiences in cystic fibrosis (CF) newborn screening (NBS) date back to the early nineteen seventies, with pioneering programmes examining the albumin content of meconium. The elevation of Immunoreactive Trypsin (IRT) in the blood of neonates with CF and its measurement in dried blood spots was first described in 1979. During the following decade, the determination of IRT levels in heel blood was introduced in several countries. Further improvement was possible after cloning of the CFTR gene in 1989 and subsequent identification of common population specific CFTR gene mutations allowed inclusion of DNA testing into screening protocols. Studies have shown that early diagnosis of CF through neonatal screening, combined with aggressive nutritional therapy, can significantly enhance long-term nutritional status. The two most common protocols for CF screening are (a) measuring IRT on one sample and then on a second sample, and (b) IRT testing followed by DNA mutation analysis on the same sample.