What is the role of genetic testing in the workup of glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Updated: Jun 25, 2020
  • Author: Lawrence C Wolfe, MD; Chief Editor: George T Griffing, MD  more...
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Answer

Genetic testing consists of DNA-based genotyping and sequencing, which helps in the identification of hundreds of mutations associated with G6PD deficiency worldwide, including many region-specific common variants. The molecular analysis may be useful for population screening, family studies, females, and prenatal diagnosis.


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