SpotOn’s kits enable rapid, cost-effective screening for haemoglobinopathies. These kits, based on patented intellectual property, enable a reliable MSMS-based method for newborn screening, as well as confirmatory testing in adult patients.
The method is based on tryptic digestion of globin proteins and then targeted multiple reaction monitoring
(MRM) MSMS analysis of the clinically diagnostic peptides for the sickle cell disease causing mutations, HbS, HbC, HbDPunjab, HbOArab, and HbE. The method also allows detection of b-thalassaemia, measurement of HbF, and detection of HbH disease.
The method is cost-effective, as it avoids the pitfalls of HPLC and IEF based methods. By providing peptide sequence/ diagnostic confirmation at the point of screening, it reduces costly and disruptive second line confirmation by avoiding clinically irrelevant haemoglobinopathies.
The method can be combined with newborn screening for biotinidase deficiency and porphobilinogen synthase activity (a well established surrogate marker for Type 1 tyrosinaemia). The combined method generates results from a single blood spot punch with a single flow-injection MSMS acquisition