Abstract

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is one of the most common genetic diseases, characterized by neonatal jaundice or hemolysis during adulthood. Neonatal screening for this disease has been established in many countries in the Mediterranean and Middle East region but not yet in Turkey. The performance of a new fully quantitative G-6-PD kit employing hemoglobin normalization was statistically evaluated and the cut-off points and reference values for the Izmir region (Aegean coast of Turkey) were established, including a long term performance evaluation of the method. Statistical acceptance of the bias and variation were also clinically evaluated using new tools, such as the Parkes error grid graph. The kit used is particularly suitable for use with Guthrie cards as well as with whole blood samples. We report here on the results of the evaluation, emphasizing the methodology we used for it.

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