O41: Genomic and clinical correlation of G6PD deficiency identified by the GUARDIAN Expanded Genomic Newborn Screening Study

Genetics in Medicine Open 2026 Open access

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Authors: Brenna M. Boyd, Carrie L. Koval-Burt, Mehmet Buğrahan Düz, Rebecca Hernan, Rachel Klein, Wendy K. Chung
DOI: 10.1016/j.gimo.2026.104330
Cited by: 0

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder conferring increased risk of neonatal hyperbilirubinemia and hemolytic anemia with exposure to “triggers” (especially fava beans and certain medications). Management is focused on trigger avoidance. A recent expert opinion survey found that 80% of experts recommended G6PD be included in gNBS, but debate continues regarding whether and how it should be included.

Fields of Study & Subjects

Neonatal Health and Biochemistry Metabolism and Genetic Disorders Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104330–104330
Publication date
1 January 2026
Language
EN