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Test Code TPI1 Triosephosphate 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.


Method Name

Kinetic Spectrophotometry (KS)

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

≥12 months: 1033-1363 U/g Hb

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657

Day(s) Performed

Tuesday, Thursday

Report Available

1 to 6 days

Forms

If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.