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Erythrocyte Pyrimidine 5'Nucleotidase

Test performed by: LabPLUS Special Haematology

Test performed by the Special Haematology laboratory: (Ext 22065) .
For results, use ward computer or phone Lablink:   22000 or (09) 307-8995 or 0800 522 758 .

  • Prior arrangement is essential. Please contact the Haematology laboratory on Ext 22065.   

  • Specimen Collection

    3xEDTA10 mL 3xEDTA Blood
    2xHeparin10 mL 2xHeparin Blood
    Reference Intervals

    Reported as Normal or Abnormal.

    Turnaround Time: Within 2 days

    Test performed on weekdays.

    Diagnostic Use and Interpretation

    This is a screening test for the homozygous state of Pyrimidine-5'-nucleotidase (P5N). Inheritance of P5N is autosomal recessive with heterozygotes being clinically and haematologically normal. In homozygotes, deficiency results in a chronic non-spherocytic haemolytic anaemia. This is characterised by mild to moderate haemolysis, pronounced red cell basophilic stippling and marked increase in both red cell reduced glutathione and pyrimidine nucleotides, namely cytidine and uridine nucleotides. These nucleotides are derived from RNA degradation and accumulate when the enzyme catalysing their dephosphorylation is deficient.

    Contact Information

    For further information contact the Special Haematology laboratory (Ext 22065) or:

    Dr Anna Ruskova                                   Ext 22137
    Dr Louisa Stone                                   Ext 22062 
    Dr Peter Bradbeer                                             Ext 22062    

    Last updated at 09:21:41 07/02/2023