Test Code: G6PDSG

Genes: G6PD (1 genes)

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

Method: Next-Gen Sequencing

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

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

Price: 700

Description:
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.