Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disease with sex-linked inheritance, due to the presence of numerous mutations in the gene that encodes the G6PD enzyme.
The clinical manifestation of the enzyme deficiency is acute hemolytic anemia that develops as a result of ingestion of beans or drugs.
The mutations that determine the G6PD deficiency are very numerous and determine extremely variable enzymatic activities. Furthermore, the levels of G6PD are variable in heterozygous women according to the different degree of Lyonization of the X chromosome. This variability makes the traditional method for the diagnosis of G6PD deficiency very imprecise in women with a sensitivity of less than 50%.
The method based on the ratio between the enzymes G6PD and 6PGD allows a sensitivity greater than 99% in both sexes. The method is in fact independent of the variations due to the number of reticulocytes and / or leukocytes, from the individual variations of Hb and from the induction phenomena observed in microcitemic subjects.
The G6PD / 6PGD method is also easy to automate and has been validated on all clinical chemistry platforms.
The Principle of the Test
Order information
G6PD deficiency diagnostic kit
Format 100ml
Code: G201
Format 50ml
Code: G202
Format 20ml
Code: G203
Controls
Standard control
Code: GK10L
Deficient control
Code: GK10LC