Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations
0051684
Ordering Recommendation
Preferred genetic test for individuals of African descent. Detects the single most common pathogenic G6PD mutation (the 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
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Submit With Order
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.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
This assay detects the following mutations: A376G and G202A in the G6PD gene.
CPT Code(s)
81479
Components
Component Test Code*Component Chart NameLOINC
0051671G6PD Allele 121681-2
0051679G6PD Allele 221681-2
0051687G6PD Mutations Interpretation21680-4
2001311G6PD Africa Specimen31208-2
* 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 (Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations)
  • RBC G6PD mutation assay