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).

This test is not currently included in the laboratory's UKAS scope of accreditation to ISO15189:2012.
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: 18/12/2020