Mass screening for glucose-6-phosphate dehydrogenase deficiency: improved fluorescent spot test.
New data on the reliability of the fluorescent spot test are presented. Improvements in the assay were established. Newborn mass screening for glucose-6-phosphate dehydrogenase (G-6-PD, EC 1.1.1.49) deficiency was performed with dried blood samples on filter paper (Guthrie-cards). Females, known to be heterozygote for G-6-PD deficiency were detected at a rate of approximately 30-70%, depending on the storage conditions of the samples. False positive results in male hemizygotes were eliminated.
D004796:Clinical Enzyme Tests; D005189:False Positive Reactions; D005260:Female; D005453:Fluorescence; D006580:Genetic Carrier Screening; D005954:Glucosephosphate Dehydrogenase; D005955:Glucosephosphate Dehydrogenase Deficiency; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening
D006454:Hemoglobins; D005954:Glucosephosphate Dehydrogenase