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HelpTest Code PFK1 Phosphofructokinase Enzyme Activity, Blood
Specimen Required
Container/Tube:
Preferred: Yellow top (ACD solution B)
Acceptable: Lavender top (EDTA) or yellow top (ACD solution A)
Specimen Volume: 6 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Useful For
Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia
Evaluation of individuals with exercise intolerance or myopathy
Genetic studies in families with phosphofructokinase deficiency
Reporting Name
Phosphofructokinase, BSpecimen Type
Whole Blood ACD-BSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood ACD-B | Refrigerated | 11 days |
Reject Due To
| Gross hemolysis | Reject |
| Fully clotted | Reject |
Reference Values
≥12 months of age: 5.8-10.9 U/g Hb
Reference values have not been established for patients younger than 12 months.
Method Description
Phosphofructokinase (PFK) catalyzes the phosphorylation of fructose-6-phosphate by adenosine triphosphate (ATP) to fructose-1,6-diphosphate (F1,6-diP). F1,6-diP is then converted to dihydroxyacetone phosphate (DHAP) through subsequent aldolase and triosephosphate isomerase catalyzed reactions. The rate of formation of DHAP is measured by linking its reduction to alpha-glycerophosphate by alpha-glycerophosphate dehydrogenase, which results in the oxidation of reduced nicotinamide adenine dinucleotide (NADH) to NAD(+). The decrease in absorbance at 340 nm is measured spectrophotometrically as the NADH is oxidized on an automated chemistry analyzer.(Beutler E. Red cell metabolism. A Manual of Biochemical Methods. 3rd ed. Grune and Stratton; 1984: 68-71; van Solinge WW, van Wijk. Enzymes of the red blood cell. In: Rifai N, Horvath AR, Wittwer CT, eds. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 6th ed. Elsevier; 2018:chap 30)
Specimen Retention Time
7 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82657
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PFK1 | Phosphofructokinase, B | 72664-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| PFKCL | Phosphofructokinase, B | 72664-6 |
Day(s) Performed
Tuesday, Thursday
Report Available
1 to 6 daysForms
If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.