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Test 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, B

Specimen Type

Whole Blood ACD-B

Specimen 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.

Performing 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

Day(s) Performed

Weekly

Report Available

5 days