Test Catalog

Test Id : GPIC

Glucose Phosphate Isomerase Enzyme Activity, Blood

Useful For
Suggests clinical disorders or settings where the test may be helpful

The evaluation of individuals with Coombs-negative chronic hemolysis

Method Name
A short description of the method used to perform the test

Only available as part of a profile. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-EEEV1 / Red Blood Cell (RBC) Enzyme Evaluation, Blood

 

Kinetic Spectrophotometry

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Glucose Phosphate Isomerase, B

Aliases
Lists additional common names for a test, as an aid in searching

Glu-P-Isomerase

GLUCOSE PHOSPHATE ISOMERASE (RBC)

GPI (Glucose Phosphate Isomerase)

PHI (Phosphohexose Isomerase)

Phosphohexose-Isomerase, Erythrocytes

Specimen Type
Describes the specimen type validated for testing

Whole Blood ACD-B

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Only available as part of a profile. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-EEEV1 / Red Blood Cell (RBC) Enzyme Evaluation, Blood

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis Reject

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

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

Useful For
Suggests clinical disorders or settings where the test may be helpful

The evaluation of individuals with Coombs-negative chronic hemolysis

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

The glucose 6-phosphate isomerase (GPI) enzyme interconverts glucose 6-phosphate and fructose 6-phosphate in the second step of glycolysis. 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 and 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
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Only available as part of a profile. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-EEEV1 / Red Blood Cell (RBC) Enzyme Evaluation, Blood

 

> or =12 months of age: 40.0-58.0 U/g Hb

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

Interpretation
Provides information to assist in interpretation of the test results

Most clinically significant hemolytic anemias due to glucose phosphate isomerase (GPI) deficiency are associated with activity levels less than 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.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Recent transfusion may mask the patient’s intrinsic enzyme activity and cause unreliable results.

 

Reticulocytosis from any cause can mask some glucose phosphate isomerase (GPI) deficiency cases by raising the activity level. Comparison to other red blood cell (RBC) enzyme activity levels or correction for reticulocytosis may be useful.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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

Method Description
Describes how the test is performed and provides a method-specific reference

Glucose phosphate isomerase (GPI) interconverts glucose 6-phosphate (G6P) and fructose 6-phosphate (F6P). In this assay, the F6P is then further converted to 6-phosphogluconate (6PG) through the G6P dehydrogenase (G6PD) reaction resulting in the reduction of nicotinamide adenine dinucleotide phosphate (NADP[+]) to NADPH. The reduction of NADP(+) is measured spectrophotometrically by the increase in absorbance at 340 nm on an automated chemistry analyzer.(Beutler E: Red cell metabolism: A Manual of Biochemical Methods. 3rd ed. Grune and Stratton; 1984: 40-42; 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)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Weekly

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

5 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

28 days

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

84087

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports