Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing

Background Information for Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing:
Characteristics: G6PD deficiency can cause chronic hemolytic anemia, food-, drug- and infection-mediated hemolytic anemia, and acute hemolytic anemia with jaundice in the newborn - which can be potentially life-threatening. Ethnic-specific variants are common in individuals of African, Southeast Asian and Mediterranean descent. Most mutations identified to-date have been classified according to the following scheme: Class I - severe enzyme deficiency with chronic non-spherocytic hemolytic anemia (CNSHA); Class II - severe enzyme deficiency with less than 10 percent of the normal activity; Class III - mild to moderate enzyme deficiency (10 to 60 percent of normal activity); and Class IV - very mild to almost normal enzyme activity (greater than 60 percent normal activity with no clinical consequences).
Incidence: Varies by ethnicity. 7 in 10 Kurdish Jewish males; 1 in 6 to 10 African American males; 1 in 7 to 9 Arabic males; 1 in 6 to 16 Southeast Asian males.
Inheritance: X-linked recessive.
Penetrance: Variable depending on mutation and sex.
Cause: Pathogenic mutations in Glucose-6-Phosphate Dehydrogenase (G6PD) gene.
Clinical Sensitivity: Expected greater than 98 percent.
Methodology: Bidirectional sequencing of the entire G6PD coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Mutations in genes other than G6PD are not evaluated.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.