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Validating the assessment of glucose 6 phosphate dehydrogenase g6pd

Genetic test for individuals at high risk for G6PD deficiency (for initial or time-sensitive screening for G6PD deficiency, refer to phenotyping enzyme assay G6PD / Glucose-6-Phosphate Dehydrogenase [G-6-PD], Quantitative, Erythrocytes) Aiding in the diagnosis of glucose-6-phosphate dehydrogenase (G6PD) deficiency Determining G6PD deficiency status in individuals with inconclusive or unexpected phenotyping results Differentiation of heterozygous females with skewed X-inactivation from homozygous and compound heterozygous females Definitive diagnosis of carrier status in females Evaluation of neonates (particularly males) with unexplained jaundice Identifying individuals at risk of drug-induced acute hemolytic anemia (AHA) related to G6PD deficiency This test involves full gene sequencing of all exons and intron/exon boundaries of the G6PD gene....

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