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Go to http://testguide.adhb.govt.nz/EGuide/ for more information.

Specimen Collection

• Erythrocyte Pyrimidine 5'Nucleotidase enzyme is stable for 6 days at 4 Degrees Celsius  and 24 hours at room temperature. 
• Patient samples being sent from outside the Auckland area should be accompanied by a control sample.
• Any specimens transported overnight should be transported on wet ice.

10 mL 3xEDTA Blood
10 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