The NeonataliStat® genomic test analyzes in 48 hours, through massive parallel sequencing, the DNA of ~1100 genes associated with severe genetic diseases of newborns, utilizing a specially developed bioinformatics algorithm.
Genetic disorders and birth defects in general are the main cause of death of newborns, with many of them due to gene diseases. Although we do not know the exact percentage of newborns admitted to neonatal intensive care units (NICU) with birth defects, it is estimated that 76% of imports in the NICU are made for reasons other than prematurity.
A 1991 study in Scotland, from a group of 821 successive imports in NICU, it was found that 5.7% of admissions involved chromosomal or gene abnormalities and this figure is probably underestimated due to the lack of many modern genetic diagnostic tests at the time.
Very recent publications have provided proof-of-principle of emergency genomic analyses in neonates admitted to NICU, which may lead to a diagnosis within two days, often saving the life of the affected infant by applying appropriate customized treatments and towards this end the Neonatalis-Stat® genomic test was developed, with the aim of providing a decisive contribution in this highly sensitive field.
The Neonatalis-Stat® genomic test has been specifically optimized, in terms of laboratory protocols – data collection and bioinformatics data analysis, in order to be completed in no more than 48 hrs, thus achieving its main purpose of a lab-to-bedside emergency (STAT) diagnostic test.