Ordering Recommendation

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

Mnemonic
G6PD AFRIC
Methodology

Polymerase Chain Reaction/TaqMAN

Performed

Mon, Thu

Reported

4-10 days

New York DOH Approval Status
This test is New York DOH 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
Remarks
Stability

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

Reference Interval
Interpretive Data

Background Information for Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations:
Characteristics:
G6PD deficiency can cause chronic hemolytic anemia, food-, drug- and infection-mediated acute hemolytic anemia, and neonatal jaundice. Most mutations identified to-date have been classified according to the following scheme: Class I - severe enzyme deficiency with chronic non-spherocytic hemolytic anemia (CNSHA); Class II - severe enzyme deficiency with less than 10 percent of the normal activity; Class III - mild to moderate enzyme deficiency (10 to 60 percent of normal activity); and Class IV - very mild to almost normal enzyme activity (greater than 60 percent normal activity with no clinical consequences).
Drug Sensitivities:
Adriamycine and other anthracycline chemotherapy agents, Dapsone, Flutamide, Mafenide cream, Methylene blue, Nalidixic acid, Nitrofurantoin, Phenazopyridine, Primaquine, Rasburicase, Sulfacetamide, Sulfamethoxazole, and Sulfanilamide.
Incidence:
Varies by ethnicity; 7 in 10 Kurdish Jewish males; 1 in 6 to 10 African American males; 1 in 7 to 9 Arabic males; 1 in 6 to 16 Southeast Asian males.
Inheritance:
X-linked recessive.
Cause:
Deleterious mutations in only the Glucose-6-Phosphate Dehydrogenase (G6PD) gene.
Mutations Tested:
c.376A>G and c.202G>A (A- allele: both mutations present in cis; A+ allele: c.376A>G alone; c.202G>A is rarely if ever seen alone).
Clinical Sensitivity:
99 percent in individuals of African descent.
Methodology:
Allele-specific hydrolysis probes (TaqMan) and fluorescent monitoring.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Only the two G6PD gene mutations targeted (c.376A>G and c.202G>A) will be detected; analytical sensitivity may be affected by rare primer or probe site mutations. Diagnostic errors can occur due to rare sequence variations.

Compliance Category

Laboratory Developed Test (LDT)

Note

This assay detects the following mutations: A376G and G202A 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 21680-4
2001311 G6PD Africa Specimen 31208-2
* 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