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.

 

Enhanced Newborn testing from paper spots

Automated haemolysate preparation:

• Eliminates all pipetting steps
• Able to import sample ID lists from automated punchers
• Load plates, press button, walk away and pick up results later

 

Option of automatic reflex of abnormal samples to a high resolution

Assay same specimen used for screening with no pre-prep

• Quick Scan Assay (2 minutes): Screens for abnormal haemoglobins
• High Resolution Assay (8 minutes): Further resolves abnormal haemoglobins for presumptive identification

 

Identifies F, A, and clinically significant variants S, C, D, E, O, Bart’s

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

 

Specifications

Sample:

• Haemolysates made from dried blood spots
• Whole blood
• Packed red blood cells from any type blood tube

Elements of Analysis

• Characterisation of haemoglobin variants.
• Quick Scan for the detection of abnormal haemoglobins
• High Resolution for confirmatory testing of samples with suspected variants

Principle: Ion exchange high performance liquid chromatography

Minimum readable division

• Area percent = 0.1%
• Retention time = 0.001 minutes

Computer

• The Genesys™ software is a Windows XP™ based program especially designed for haemoglobin variant analysis of neonatal samples.
• The software will be installed on the hard drive of the computer system so disks will not be needed for either running the instrument or saving data.

 

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Consumables

• Genesys Analytical Column
• A2F Control Material Kit
• FASC Position Marker Kit
• Genesys 1 Reagent
• Genesys 2 Reagent
• Genesys Diluent Reagent
• System Wash Reagent