Glucose-6-Phosphate Dehydrogenase Deficiency via the G6PD Gene
Use
The test is intended for individuals with relevant clinical features or those with a suspected diagnosis of G6PD deficiency. It can also be used for reproductive partners of individuals with known G6PD pathogenic variants. The test helps in the diagnosis and management of Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency, a genetic disorder affecting red blood cells.
Special Instructions
The test can be ordered in conjunction with other panels, such as exome-wide CNV analysis, available as an add-on. Patients can opt for STAT testing for faster results, with an added surcharge.
Limitations
This test may not detect all genetic variants associated with G6PD deficiency. False negatives or false positives are possible, especially for variants outside the targeted regions or those with low allele frequency. Additionally, this test has not been cleared or approved by the FDA.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided