Home
HelpTest Code PGKC Phosphoglycerate Kinase Enzyme Activity, Blood
Specimen Required
Only orderable 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, as a part of a profile
Evaluation of individuals with myopathic or neurologic symptoms
Method Name
Only orderable 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 |
|---|---|---|
| Whole Blood ACD-B | Refrigerated | 20 days |
Reject Due To
| Gross hemolysis | Reject |
| Fully clotted | Reject |
Clinical Information
Phosphoglycerate kinase (PGK) is an enzyme that converts 1,3-diphosphoglycerate into 3-phosphoglyceric acid), during glycolysis, representing one of the adenosine triphosphate-generating steps. 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 heterozygous individuals may possibly be mildly affected.
Reference Values
Only orderable 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 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
Tuesday, Thursday