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HelpTest 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, BSpecimen Type
Whole Blood ACD-BSpecimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood ACD-B | Refrigerated | 20 days |
Reject Due To
| Gross hemolysis | Reject |
Clinical Information
Phosphoglycerate kinase (PGK) is an enzyme that converts 1,3-diphosphoglycerate to 3-phosphoglyceric acid) in one of the adenosine triphosphate (ATP) generating steps in glycolysis. PGK deficiency (OMIM 300653) is an X-linked disorder with a variable clinical phenotype. Manifestations include hemolytic anemia, myopathy/rhabdomyolysis, or neurologic impairment. Patients can have 1 or 2 systems affected but rarely have all 3. Clinical severity may not correlate with enzyme activity and female heterozygotes may possibly be mildly affected.
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)
Specimen Retention Time
7 daysPerforming 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