Meyer Children's Hospital of Florence and PerkinElmer have developed an early stage neonatal diagnostic test for Tyrosinaemia Type I.
The NeoBase test is capable of testing newborns for the disease within the first 48 hours of life, facilitating early diagnosis and immediate intervention by clinicians.
The screening test detects the disease through a Succinylacetone marker in a single drop of blood, and is 100% accurate in identifying Tyrosinaemia Type I.
PerkinElmer Specialty Diagnostics Neonatal Screening vice president Scott Palubiak said until the development of this new screening test, the diagnosis of Tyrosinemia Type I relied mainly on clinical observation of newborns over their first few months – which enabled the disease to progress to the point where severe intervention was required, possibly even a liver transplant.
Co-developer of the test Giancarlo la Marca said the novel biomarker assay can provide hope to the thousands of newborns each year who are afflicted with this very challenging and often lethal disorder.