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Test ID: GPI1 Glucose Phosphate Isomerase Enzyme Activity, Blood


Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send in original tube. Do not transfer blood to other containers.


Useful For

The evaluation of individuals with Coombs-negative chronic hemolysis

Method Name

Kinetic Spectrophotometry (KS)

Reporting Name

Glucose Phosphate Isomerase, 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

Clinical Information

The glucose 6-phosphate (G6P) isomerase enzyme interconverts G6P and fructose-6-phosphate in the second step of glycolysis. Glucose phosphate isomerase (GPI) deficiency (OMIM 613470) is a cause of nonspherocytic hemolytic anemia and has been reported in patients from varied ethnic backgrounds. As investigational methods have improved, the number of confirmed diagnoses has increased, although the disorder remains rare. Inheritance is autosomal recessive. Clinically significant GPI deficiency manifests in variable severity ranging from mild to severe anemia, with jaundice, gallstones, splenomegaly. Some cases of neonatal death/hydrops fetalis have been reported to be associated with GPI deficiency. A subset of patients shows neurologic impairment and granulocyte dysfunction. Heterozygotes are expected to have a normal phenotype.

Reference Values

≥12 months: 40.0-58.0 U/g Hb

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

Interpretation

Most clinically significant hemolytic anemias due to glucose phosphate isomerase (GPI) deficiency are associated with activity levels under 30% of mean normal; however, some clinically affected patients can have higher activity due to reticulocytosis. Heterozygotes usually show 40% to 60% of mean normal activity and are hematologically normal.

 

Increased GPI activity is variably seen when young red blood cells are being produced in response to the anemia (reticulocytosis) or in newborns.

Clinical Reference

1. Manco L, Bento C, Victor BL, et al: Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study. Blood Cells Mol Dis. 2016 Sep;60:18-23

2. Mojzikova R, Koralkova P, Holub D, et al: Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin. Blood Cells Mol Dis. 2018 Mar;69:23-29

3. Fairbanks VF, Klee GG: Biochemical aspects of hematology. In: Burtis CA, Ashwood ER, eds. Tietz Textbook of Clinical Chemistry. 3rd ed. WB Saunders Company; 1999:1642-1646

4. 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

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 U.S. Food and Drug Administration.

CPT Code Information

84087

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GPI1 Glucose Phosphate Isomerase, B 44050-3

 

Result ID Test Result Name Result LOINC Value
GPICL Glucose Phosphate Isomerase, B 44050-3
Mayo Clinic Laboratories | Hematology Catalog Additional Information:

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