Invitae Glucose-6-Phosphate Dehydrogenase Deficiency Test


Test description

The Invitae Glucose-6-Phosphate Dehydrogenase Deficiency Test analyzes the glucose-6-phosphate dehydrogenase (G6PD) gene. The G6PD gene codes for an enzyme that is involved in carbohydrate production. Without enough of the enzyme, red blood cells are prematurely broken down and cannot repair themselves, resulting in hemolytic anemia. This test may be appropriate for jaundiced newborns, depending on their family history, ethnicity, and response to therapy. Patients with low levels of the G6PD enzyme on biochemical analysis can be confirmed with molecular testing.

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Primary panel (1 gene)


G6PD deficiency

G6PD deficiency is suspected in neonates with prolonged jaundice and in individuals with hemolytic anemia. Most individuals are asymptomatic. Exposure to certain drugs, illnesses, and foods can lead to the signs and symptoms of the disorder, which include fatigue, pale skin, fainting, shortness of breath, rapid heart rate, jaundice, red or brown urine, and an enlarged spleen. G6PD is most common in African, Mediterranean, and Southeast Asian populations.

G6PD is an X-linked recessive condition. Most individuals are asymptomatic. Symptomatic individuals are usually male, but female carriers can be symptomatic, too. Exposure to certain drugs (e.g., antimalarials, sulfonamides), illnesses, and foods (e.g., fava beans) can cause hemolytic anemia in affected individuals.

Greater than 99% of individuals with G6PD deficiency are expected to have pathogenic variants in the G6PD gene.

G6PD deficiency is inherited in an X-linked recessive manner.

G6PD is the most common enzyme deficiency in the world and is thought to confer heterozygote advantage to malaria. G6PD deficiency is most commonly found in African, Mediterranean, and Asian populations. 1 in 10 African American males has G6PD.

This test may be appropriate for patients with neonatal jaundice and hemolytic anemia.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
G6PD NM_001042351.2