Erythrocyte pyruvate kinase - whole blood Refered Test
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PKE
Synonyms
- Erythrocyte pyruvate kinase
Clinic significance
Congenital deficiency of pyruvate kinase (PK) activity in erythrocytes is an autosomal recessive trait which affects the anaerobic glycolysis pathway. Heterozygotes are usually asymptomatic but homozygotes are prone to chronic, medium-level hemolytic anemia with jaundice and variable splenomegaly. The condition can sometimes be complicated by pigmentary lithiasis and hemochromatosis.Reduced PK activity has been reported in certain kinds of acquired hemopathy including refractory anemia, erythropoietic disorders and acute granulocytic leukemia.
In children under one year of age, an erythrocyte PK assay cannot be interpreted due to unstabilised erythropoiesis and possible passage of erythroblasts into the bloodstream, especially in a haemolytic context.
To eliminate a PK deficiency, a parental sample for PK content is recommended. Enclose consent for possible genetic analysis.
Prenalytics
- 5 mL
- ACD whole blood
- Refrigerated
Further information
- 1 individual aliquot for this analysis.
- do not collect before the age of 1 year
- Dosage at a distance from any transfusion less than 3 months old
Specific equipment available
T16: ACD tube (provided on request)
Methodology
Spectrophotometry
Turnaround time
2 weeks
Pathologist(s) in charge
Specialty
Contact(s)
Dr Isabelle PETIT
Phone(s)
+331 49 59 16 72
Caption
The pre-analytical conditions and prices are defined on the basis of the requirements of the performing laboratory.