Ordering Recommendation

Preferred genetic test for individuals of African descent. Use to detect the single most common pathogenic G6PD variant (the A- allele) in individuals of African descent. For initial screening for GP6D deficiency, refer to Glucose-6-Phosphate Dehydrogenase (0080135).

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Frozen specimens in glass collection tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month

Methodology

Polymerase Chain Reaction (PCR) / Fluorescence Monitoring

Performed

Varies

Reported

4-10 days

Reference Interval

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

This assay detects the following variants: c.376A>G and c.202G>A in the G6PD gene.

Hotline History

N/A

CPT Codes

81247

Components

Component Test Code* Component Chart Name LOINC
0051671 G6PD Allele 1 21681-2
0051679 G6PD Allele 2 21681-2
0051687 G6PD Mutations Interpretation 94231-8
2001311 G6PD Africa Specimen 66746-9
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • G-6-PD Mutations, African Alleles
  • RBC G6PD mutation assay
Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations