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Test Code PGK1 Phosphoglycerate Kinase Enzyme Activity, Blood


Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send specimen in original tube. Do not transfer blood to other containers.


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

Kinetic Spectrophotometry

Reporting Name

Phosphoglycerate Kinase, B

Specimen Type

Whole Blood ACD-B

Specimen Minimum Volume

1 mL

Specimen Stability Information

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

Reject Due To

Gross hemolysis Reject
Fully clotted Reject

Reference Values

≥12 months: 142-232 U/g Hb

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

Interpretation

In phosphoglycerate kinase (PGK) deficiency, RBC activity levels have been reported ranging from 1% to 49% of mean normal; however, affected patients more typically have values below 20% of normal mean. (1)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PGK1 Phosphoglycerate Kinase, B 44053-7

 

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

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.