Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing, Varies
Use
This test is used for genetic testing of individuals at high risk for glucose-6-phosphate dehydrogenase (G6PD) deficiency. It aids in diagnosing G6PD deficiency, determining G6PD deficiency status in individuals with inconclusive or unexpected phenotyping results, differentiating heterozygotes with skewed X-inactivation from homozygotes and compound heterozygotes, and making a definitive diagnosis of carrier status. Additionally, it is useful in evaluating neonates with unexplained jaundice and identifying individuals at risk for drug-induced acute hemolytic anemia related to G6PD deficiency.
Special Instructions
This test is recommended before prescribing medication associated with hemolysis in individuals with G6PD deficiency. G6PD enzyme testing (order G6PD1) may be suggested as follow-up to this assay for more comprehensive results.
Limitations
This test involves full gene sequencing of all exons and exon/intron boundaries of the G6PD gene. It does not assess glucose-6-phosphate dehydrogenase enzyme activity. False negatives may occur if a mutation is outside the regions sequenced.
New York Approved
Methodology
PCR-based (DNA Sequence Analysis)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
For cord blood specimens that have an accompanying maternal blood specimen, maternal cell contamination studies will be performed at an additional charge.