Phenylalanine test system, consisting of a reagent kit, software, and tandem mass spectrometer, will be used worldwide in the identification of phenylketonuria in newborns
PerkinElmer has announced that it is the first company to receive FDA 510(k) certification to market a comprehensive screening system to identify whether a newborn may become developmentally impaired or risk premature death.
PerkinElmer's NeoGram phenylalanine test system, consisting of a reagent kit, application software and tandem mass spectrometer, will be used worldwide in the identification of a disorder known as phenylketonuria (PKU), in newborns.
PKU is an inborn error of metabolism characterised by the lack of the phenylalanine dehydrogenase enzyme.
Without this enzyme, the body is unable to break down the amino acid, phenylalanine, commonly found in food proteins.
As a result, phenylalanine builds up in the bloodstream causing several maladies, including irreversible mental retardation and premature death.
Early detection of the disorder in newborns allows the administration of a phenylalanine-restricted diet to ensure that the infant will develop normally.
Approximately one newborn in every 10,000 is PKU positive.
This disorder occurs in all ethnic groups, although it is most common in individuals of northern European ancestry. PerkinElmer's NeoGram phenylalanine test system includes a reagent kit with standards, controls and reagents manufactured under Good Manufacturing Practices (GMP) and FDA guidelines to produce accurate and consistent results.
The reagent kit is designed to run exclusively on tandem mass spectrometry equipment, recognised as the latest technological advancement for newborn screening.
Bringing the system together is the NeoGram application-specific software, which was developed exclusively by PerkinElmer's software engineers.
"Tandem mass spectrometry (MS/MS) is a highly sensitive and specific detection methodology that has significant potential in newborn screening," said Harry Hannon, director of neonatal quality assurance, Center for Disease Control in Atlanta, Georgia. Identification of likely PKU cases by the NeoGram phenylalanine test system is accomplished by isotope dilution MS/MS, whereby a sample extracted with a solution containing relevant internal standards from the kit is introduced into the tandem mass spectrometer (two mass filters linked by a central collision cell).
The first mass filter selects phenylalanine and tyrosine (a byproduct of the phenylalanine metabolic pathway), and the corresponding internal standards out of the complex sample matrix.
The selected compounds are then directed to the central collision cell where each of them is broken down into smaller fragments.
The second mass filter selects fragments that are highly specific for each of these amino acids, and the intensities are recorded by the detection system.
The relative intensities are used to calculate the concentrations of the analytes, subsequently used to determine the likelihood that a newborn tests positive for PKU.
"Receipt of the 510(k) certification allows us to commercially market our phenylalanine test kit utilizing tandem mass spectrometry, which will help to improve and save the lives of newborns around the world," said Peter Coggins, president, PerkinElmer Life and Analytical Sciences.
"It is a significant milestone in newborn screening and exemplifies our commitment to use our industry-leading screening technologies to improve the lives of individuals from birth through adulthood.
It is our goal to provide industry standard screening solutions that will yield comparable results no matter where in the world tests are performed."
