Test Code: G6PDSG

G6PD Sequence Analysis (Sanger/NGS)

Monogenic disorder

This test is used for molecular diagnosis of glucose-6-phophate dehydrogenase deficiency. by full gene sequencing and deletion/duplication analysis. Molecular diagnosis of G6PD by amplicon sequencing via Next Generation Sequencing. All 14 exons and at least +/- 10 bp in the introns are sequenced for pathogenic and likley pathogenic variants of G6PD, mostly produced from missense mutations. Variants of uncertain significance are not reported.

Sample Type

Lavender-top (EDTA) tube, 30-mL amniotic fluid in sterile falcon tubes, or two confluent T-25 flasks for fetal testing.

Turnaround Time

10 days for Blood; Amniotic Fluid/CVS 14-20 days days

Courier Requirements

Ship overnight at room temperature to receive next day. Maintain specimen at room temperature.

Pricing

Genes Analyzed

1 genes

G6PD

Methodology

Next-Gen Sequencing

Test Code G6PDSG
Category Monogenic disorder
Sample Lavender-top (EDTA) tube, 30-mL amniotic fluid in sterile falcon tubes, or two confluent T-25 flasks for fetal testing.
TAT 10 days for Blood; Amniotic Fluid/CVS 14-20 days days
Courier Ship overnight at room temperature to receive next day. Maintain specimen at room temperature.
Genes 1 genes analyzed

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