Test Catalog

Test Id : TPI1

Triosephosphate Isomerase Enzyme Activity, Blood

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

Evaluating individuals with chronic nonspherocytic hemolytic anemia

 

Evaluating individuals with early onset neurologic impairment

 

Genetic counseling for families with triosephosphate isomerase deficiency

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

Kinetic Spectrophotometry (KS)

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

Triosephosphate Isomerase, B

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

Erythrocyte Triosephosphate Isomerase

TPI (Triosephosphate Isomerase)

Triosephosphate Isomerase, B

Triosephosphate Isomerase, RBC

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

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.

Forms

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

Evaluating individuals with chronic nonspherocytic hemolytic anemia

 

Evaluating individuals with early onset neurologic impairment

 

Genetic counseling for families with triosephosphate isomerase deficiency

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

Triosephosphate isomerase (TPI) converts dihydroxyacetone phosphate (DHAP) to glyceraldehyde 3-phosphate (G3P) during glycolysis. Clinically significant TPI deficiency (OMIM #615512, autosomal recessive) is rare and classically manifests as a severe multisystem disorder with early hemolytic anemia and progressive neurologic impairment in infancy. Other clinical features include motor impairment, diaphragm paralysis, cardiomyopathy, and susceptibility to infections. Some cases have isolated hemolytic anemia.

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.

> or =12 months: 1033-1363 U/g Hb

Reference values have not been established for patients who are less than12 months of age.

Interpretation
Provides information to assist in interpretation of the test results

Clinically significant hemolytic anemias due to triosephosphate isomerase deficiency are associated with activity levels below 30% of mean normal. Heterozygotes usually show approximately 50% of mean normal activity and are clinically unaffected.

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 enzyme activity of the patient and cause unreliable results.

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

1. Orosz F, Olah J, Ovadi J: Triosephosphate isomerase deficiency: facts and doubts. IUBMB Life. 2006 Dec;58(12):703-715

2.  Fermo E, Bianchi P, Vercellati C, et al:Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene. Eur J Haematol. 2010 Aug;85(2):170-173

3. Tanaka KR, Zerez CR: Red cell enzymopathies of the glycolytic pathway. Semin Hematol. 1990;27:165

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

Triosephosphate isomerase (TPI) interconverts glyceraldehyde 3-phosphate (G3P) and dihydroxyacetone phosphate (DHAP). The rate of DHAP formation is measured by further converting it to alpha-glycerophosphate by alpha-glycerophosphate dehydrogenase which results in the oxidation of1,4-dihydronicotinamide adenine dinucleotide (NADH) to NAD(+). The oxidation of NADH is measured spectrophotometrically by the decrease 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; 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

7 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.

82657

LOINC® Information

Test Id Test Order Name Order LOINC Value
TPI1 Triosephosphate Isomerase, B 44054-5
Result Id Test Result Name Result LOINC Value
Result LOINC Value Tooltip
TPICL Triosephosphate Isomerase, B 44054-5

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