Phosphofructokinase Enzyme Activity, Blood
Use
Phosphofructokinase enzyme activity test is useful for the evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia and those with exercise intolerance or myopathy. It is also valuable for genetic studies in families with phosphofructokinase deficiency, which can manifest in several clinical subtypes, including classical, late-onset, infantile, and hemolytic forms. The measurement of red blood cell PFK activity helps identify compensated or mild hemolytic anemia and other symptoms like hyperuricemia or gout-like conditions.
Special Instructions
Not provided.
Limitations
Recent transfusions may mask patients' intrinsic erythrocyte enzyme activity, leading to unreliable results. Enzyme deficiency disorders might be obscured by reticulocytosis, and neonatal enzyme activity levels may vary. Testing should be repeated for neonates after the age of 1 year if symptoms persist.
New York Approved
Methodology
Automated Analyzer (Clinical Chemistry)
Biomarkers
Phosphofructokinase
Other
LOINC Codes
- 72664-6 - PFK RBC-cCnt
- 72664-6 - PFK RBC-cCnt
Result Turnaround Time
1-6 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
1 mL
Container
Yellow top (ACD solution B)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Causes for Rejection
Gross hemolysis, Fully clotted
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 11 days |