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Test Code G6PD1 Glucose 6-Phosphate Dehydrogenase Enzyme Activity, Blood


Specimen Required


Collection Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Lavender top (EDTA) or yellow top (ACD solution A)

Specimen Volume: 6 mL

Collection Instructions: Send specimen in original tube. Do not aliquot.


Secondary ID

607460

Useful For

Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia

 

Rapid testing to assess glucose 6-phosphate dehydrogenase (G6PD) enzyme capacity prior to Rasburicase or other therapies that may cause hemolysis or methemoglobinemia in G6PD deficient patients

 

May aid in the creation of a comprehensive patient profile and can ensure appropriate patient monitoring for developing anemia

Method Name

Kinetic Spectrophotometry

Reporting Name

G6PD Enzyme Activity, B

Specimen Type

Whole Blood ACD-B

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD-B Refrigerated 20 days

Reject Due To

Gross hemolysis Reject

Reference Values

≥12 months of age: 8.0-11.9 U/g Hb

Reference values have not been established for patients who are less than 12 months of age.

Clinical Reference

1. Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008 Jan 5;371(9606):64-74

2. Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group. Bull World Health Organ. 1989;67(6):601-611

3. Minucci A, Moradkhani K, Hwang MJ, et al: Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the "old" and update of the new mutations. Blood Cells Mol Dis. 2012 Mar 15;48(3):154-165

4. Au WY, Ma ES, Lam VW, et al: 6-phosphate dehydrogenase (G6PD) deficiency in elderly Chinese women heterozygous for G6PD variants. Am J Med Genet A. 2004 Aug 30;129A(2):208-211

5. ELITEK (rasburicase). Package insert: Sanofi-aventis; Updated December 2019. Accessed October 22, 2020; Available at products.sanofi.us/elitek/Elitek.html

6. Relling MV, McDonagh EM, Chang T, et al: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype. Clin Pharmacol Ther. 2014 Aug;96(2):169-174

7. Robinson KM, Yang W, Haider CE, et al: Concordance between glucose-6-phosphate dehydrogenase (G6PD) genotype and phenotype and rasburicase use in patients with hematologic malignancies. Pharmacogenomics J. 2019 June;19(3):305-314. doi:10.1038/s41397-018-0043-3

8. Mohammad S, Clowse MEB, Eudy AM, Criscione-Schreiber LG: Examination of hydroxychloroquine use and hemolytic anemia in G6PDH-deficient patients. Arthritis Care Res (Hoboken). 2018 Mar;70(3):481-485. doi: 10.1002/acr.23296

9. Mandi G, Witte S, Meissner P, et al: Safety of the combination of chloroquine and methylene blue in healthy adult men with G6PD deficiency from rural Burkina Faso. Trop Med Int Health. 2005 Jan;10(1):32-38

10. PLAQUENIL Hydroxychloroquine Sulfate Tablets, USP. Package insert: Concordia Pharmaceuticals Inc; 2015 Updated January 2017.  Accessed April 8, 2020. Available at www.accessdata.fda.gov/drugsatfda_docs/label/2017/009768s037s045s047lbl.pdf

11. Beutler E: Glucose-6-phosphate dehydrogenase deficiency. In: Beutler E, Lichtman MA, Coller BS, Kipps TJ. Hematology. 5th ed. McGraw-Hill Book Company; 1995:564-586

12. Mehta A, Mason PJ, Vulliamy TJ: Glucose-6-phosphate dehydrogenase deficiency.  Baillieres Best Pract Res Clin Haematol. 2000 Mar;13(1):21-38

13. Koralkova P, van Solinge WW, van Wijk R: Rare hereditary red blood cell enzymopathies associated with hemolytic anemia-pathophysiology, clinical aspects and laboratory diagnosis. Int J Lab Hematol. 2014;36:388-397

Method Description

Glucose 6-phosphate dehydrogenase (G6PD) in a hemolysate catalyzes the oxidation of glucose 6-phosphate to 6-phosphogluconate. Concomitantly, nicotinamide adenine dinucleotide phosphate (NADP[+]) is changed to its reduced form, NADPH, and the reaction is measured spectrophotometrically on an automated chemistry analyzer.(Beutler E: Red cell metabolism: A Manual of Biochemical Methods. 3rd ed. Grune and Stratton;, 1984:68-71; van Solinge WW, van Wijk: Enzymes of the red blood cell. In: Rifai N, Horvath AR, Wittwer CT: eds. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 6th ed. Elsevier; 2018:chap 30)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82955

LOINC Code Information

Test ID Test Order Name Order LOINC Value
G6PD1 G6PD Enzyme Activity, B 32546-4

 

Result ID Test Result Name Result LOINC Value
G6PCL G6PD Enzyme Activity, B 32546-4

Day(s) Performed

Monday through Friday

Report Available

1 to 4 days