GeneSys™ Newborn Screening platform is the first on the market to offer a fully automated approach for newborn screening while providing presumptive identification for all key infant haemoglobin variants.
Newborn screening for inborn errors of metabolism offers the potential of substantially altering the natural history of these diseases by reducing morbidity and mortality. Neonatal identification of sickle cell disease can significantly reduce mortality and morbidity during the first 5 years of life. High performance liquid chromatographic methods with high sensitivity and specificity have been developed for haemoglobin fractionation. The HPLC screening method quantifies the relative concentrations of haemoglobin variants and has a good reproducibility with singleton determination.
Trinity Biotech,a leader in HPLC haemoglobin variant testing, now brings its expertise to Newborn Screening. GeneSys™ system is designed for high volume throughput and ease of use. The established reliability of the instrument adds efficiency, reduces costs and sets the industry standard for haemoglobin variant testing.
Automated haemolysate preparation:
Assay same specimen used for screening with no pre-prep
The red cells of newborns with alphathalassemia contain haemoglobin Bart’s, a tetramer of gamma globin.
Many, but not all neonatal screening programs detect and report Hb Bart’s.
Newborns with >30% hemoglobin Bart’s by HPLC and/or who develop more severe anemia may have Hb H disease or Hb H Constant Spring disease.
More extensive diagnostic testing and consultation with a pediatric hematologist is generally needed for accurate diagnosis and appropriate treatment. The identification of Hb Bart’s in Asian infants can have
important genetic implications for couples who may be at risk for pregnancies complicated by hydrops fetalis.
Report quantitative results and phenotypes
Provide speed, accuracy and reliability
Sample:
Elements of Analysis
Principle: Ion exchange high performance liquid chromatography
Minimum readable division
Computer
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