This panel analyzes the c.376A>G (p.N126D), c.202G>A (p.V68M), c.376A>G (p.N126D), c.563C>T (p.S188F), c.1388G>A (p.R463H) , c.1376G>T (p.R459L) variants in the G6PD gene.

Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males.  This condition affects red blood cells which carry oxygen from the lungs to tissues throughout the body. A defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely (hemolysis) which can cause hemolytic anemia. It is estimated that 400 million people worldwide have glucose-6-phosphate dehydrogenase deficiency. (NIH, genetics home reference)

Gene analysis for the various targeted mutations is performed by polymerase chain reaction and melting curve analysis to detect the mutant and wild type form of the gene. Sequence specific oligonucleotide probes are labeled with fluorescent dyes which hybridize to their complementary sequence target in PCR products. The fluorescence resonance energy transfer (FRET) from one fluorophore to another adjacent fluorophore is measurable and is directly proportional to the amount of target DNA generated during PCR. Allele specific melting curves are generated by slow thermal denaturing of the probe: template hybrid. Melting curves are generated by monitoring fluorescence over the course of denaturation and melting peaks are generated by plotting the inverse derivative of fluorescence versus temperature (−dF/dT).