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Laboratory Test Directory

G6PD Sanger Sequencing (Updated)

Components

Name Method Department Units
G6PD Sanger Sequencing Bi-directional sequence analysis
Sanger sequencing
Send Out Genetics

Battery Members

Bidirectional Sanger sequencing using genomic DNA of all coding exons of the G6PD gene plus ~10 bp of flanking non-coding DNA on each side.

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

6 mL 5 mL
Alternate

Yellow tube (ACD)

8 mL 5 mL
Stability

Room temperature - 48 hour(s)
Refrigerated - 1 week(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze
  • Transport to laboratory as soon as possible

Reasons for Rejection

  • Centrifuged specimen
  • Wrong collection tube
  • Frozen specimen
  • Clotted specimen
  • Delayed or improper handling

Comments

This testing involves sequencing of the G6PD gene associated with Glucose -6-Phosphate dehydrogenase deficiency. Indications for Test: Candidates for this test are patients showing features consistent with G6PD (anemia, increased LDH, decreased haptoglobin, and presence of Heinz bodies). Biochemical G6PD enzymatic assays may appear normal during an acute hemolytic episode Families with members who have known G6PD mutations are also strong candidates.

Complete the attached test requisition and submit with the specimen.

CPT Code

  • 81479