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Test Code TPIC Triosephosphate Isomerase Enzyme Activity, Blood


Specimen Required


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

-HAEV1 / Hemolytic Anemia Evaluation, Blood

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


Method Name

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

Specimen Type

Whole Blood ACD-B

Specimen Minimum Volume

1 mL

Specimen Stability Information

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

Reject Due To

Gross hemolysis Reject

Clinical Information

Triosephosphate isomerase (TPI) converts dihydroxyacetone phosphate to glyceraldehyde 3-phosphate 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

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

-HAEV1 / Hemolytic Anemia Evaluation, Blood

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

 

≥12 months of age: 1033-1363 U/g Hb

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657

Day(s) Performed

Weekly, Varies

Report Available

5 days