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Test Code PGKC Phosphoglycerate Kinase 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


Useful For

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern.

 

Evaluation of individuals with myopathic or neurologic symptoms

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 (KS)

Reporting Name

Phosphoglycerate Kinase, B

Specimen Type

Whole Blood ACD-B

Specimen Stability Information

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

Reference Values

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

-HAEV1 / Hemolytic Anemia Evaluation

-EEEV1 / Red Blood Cell (RBC) Enzyme Evaluation

 

≥12 months: 142-232 U/g Hb

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

Interpretation

In phosphoglycerate kinase deficiency, red blood cell activity levels have been reported ranging from 1% to 49% of mean normal; however, affected patients more typically have values less than 20% of normal mean.(1)

Clinical Reference

1. Chiarelli LR, Morera SM, Bianchi P, et al. Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. PLoS One. 2012;7(2):e32065. doi:10.1371/journal.pone.0032065

2. Valentine WN, Hsieh HS, Paglia DE, et al: Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes: a probable X-chromosome-linked syndrome. New Eng J Med. 1969;280(10):528-534

3. Beutler E: PGK deficiency. Br J Haematol. 2007;136(1):3-11

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PGKC Phosphoglycerate Kinase, B 44053-7

 

Result ID Test Result Name Result LOINC Value
PGKCL Phosphoglycerate Kinase, B 44053-7

Day(s) Performed

Weekly

Report Available

5 days