ADA 2 in plasma/serum (adenosine deaminase)

This test is to look for a rare metabolic disease, adenosine deaminase 2 deficiency (ADA2). There are two forms of the ADA enzyme, ADA1 and ADA2. ADA1 is encoded by the ADA gene and is found in all cells. A deficiency of this enzyme results in severe combined immunodeficiency. ADA2 is encoded by the CECR1 gene and the enzyme is found in extracellular liquid (plasma).
Clinical details: 
Polyarteritis nodosa vasculopathy and early onset stroke and vasculopathy are the main presenting symptoms, but myalgia/arthralgia, liver racemosa, hepatosplenomegaly, erthyema nodosum, eye problems, gastrointestinal problems, antibody deficiency and immune dysregulation, pure red cell aplasia, haemolytic anaemia have also been associated with ADA2 deficiency.
Reference range: 

6.9-59.7 IU/L

Sample type and Volume required: 
Sample type and Volume required:
EDTA (whole blood) - 3ml
EDTA (plasma) - 2ml
SST (serum) - 2ml
Turnaround time: 
2 weeks
Special sample instructions: 

Criteria for acceptance / rejections of sample: Haemolysed samples will be rejected

Storage and transport: 
Whole Blood - keep in refrigerated and send to the Laboratory via next day delivery Plasma/Serum – store at -20°C until posting
Purine Research Laboratory at St Thomas'
020 7188 1266
St Thomas’ Hospital
North Wing - 4th Floor
Westminster Bridge Road
London SE1 7EH
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 09/01/2020