• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit




Associated disorders

The G6PD gene is associated with X-linked glucose-6-phosphate dehydrogenase deficiency (MedGen UID: 40355).

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Invitae tests that include this gene:

Pathogenic variants in the G6PD gene are the only known cause of glucose-6-phosphate dehydrogenase deficiency (PMID: 8861278).

The G6PD gene encodes the glucose-6-phosphate dehydrogenase enzyme which catalyses the first reaction in the pentose phosphate pathway, providing reducing power to all cells in the form of NADPH which enables cells to counterbalance oxidative stress. Since red blood cells do not contain mitochondria, they depend on pentose phosphate pathway for NADPH production, and thereby, defend against oxidative damage (PMID: 24146346)

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

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