ADA (adenosine deaminase) - Enzyme Assay

Description: 
Adenosine deaminase (ADA) catalyses the deamination of adenosine and deoxyadenosine to inosine and deoxyinosine respectively. A deficiency of ADA leads to the accumulation of toxic dATP in T- and B- cells. The enzyme is assayed in red cell lysates as the conversion of adenosine to inosine using an HPLC-based method.
Clinical details: 
Adenosine deaminase (ADA) deficiency is a cause of severe combined immunodeficiency. Patients typically present in the first few weeks of life with recurrent infections and failure to thrive. There is a lack T and B cell immunity and absent lymph nodes.

High ADA enzyme activity levels are found in cases of Diamond-Blackfan anaemia (DBA), a congenital erythroid aplasia that usually presents in infancy.
Reference range: 

40 - 100

Units: 
nmol/h/ mgHb
Sample type and Volume required: 
EDTA (purple top) Mutation analysis and carrier testing available
Turnaround time: 
1 week
Storage and transport: 
Store in fridge, ( don’t freeze)to laboratory within 7 days/1st class post
Contacts:
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: 15/12/2015