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.
This test is not currently included in the laboratory's UKAS scope of accreditation to ISO15189:2022.
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
Location: 
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:
Inherited Metabolic Diseases Unit at Blackfriars Hub
07592 502653
Reference Chemistry, 1st Floor Blackfriars Hub
Friars Bridge Court
Blackfriars Road
London
SE1 8NZ
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 08/10/2025