Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Genetic test for individuals at high risk for glucose-6-phosphate dehydrogenase (G6PD) deficiency
Aiding in the diagnosis of 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
Several medications, including rasburicase, methylene blue and dapsone, result in acute hemolytic anemia (AHA) when taken by individuals with G6PD deficiency.
FDA labeling and Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines recommend that G6PD testing be undertaken in high-risk populations before prescribing drugs known to cause AHA. Knowing a patient's genotype is generally sufficient to avoid contraindicated drugs, but follow-up with the phenotyping enzyme assay may be necessary to clarify results in some cases.
This test involves full gene sequencing of all exons and intron/exon boundaries of the G6PD gene. A comprehensive interpretation will be provided including congenital and pharmacogenomic implications of results. Testing should be considered before prescribing medication associated with hemolysis in individuals with G6PD deficiency.
The following algorithms are available in Special Instructions:
-G6PD Genotyping Algorithm for Therapeutic Drug Recommendations
-Newborn Screen Follow-up for Glucose-6-Phosphate Dehydrogenase (G-6-PD) Deficiency
For more information, see Newborn Screening Act Sheet Glucose-6-Phosphate Dehydrogenase Deficiency in Special Instructions.
Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis