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Test Code PFKC Phosphofructokinase Enzyme Activity, Blood

Reporting Name

Phosphofructokinase, B

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

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)


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


Specimen Type

Whole Blood ACD-B

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD-B Refrigerated 11 days

Reject Due To

Gross hemolysis Reject

Reference Values

Only available as part of a profile. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-EEEV1 / Red Blood Cell (RBC) Enzyme Evaluation, Blood

 

≥12 months of age: 5.8-10.9 U/g Hb

Reference values have not been established for patients who are younger than 12 months.

Interpretation

Clinically significant disorders due to phosphofructokinase (PFK) deficiency are associated with red blood cell activity levels less than 50% of mean normal. Unaffected heterozygous individuals have been reported with levels of 63% of normal. Therefore, genetic correlation will often be important in ambiguous cases.

Day(s) Performed

Weekly

Report Available

5 days

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
PFKC Phosphofructokinase, B 72664-6

 

Result ID Test Result Name Result LOINC Value
PFKCL Phosphofructokinase, B 72664-6