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.
- Related condition
- Reference range
40 - 100
- Units
- nmol/h/ mgHb
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Reference Chemistry
- Sample type and volume required
- EDTA (purple top) Mutation analysis and carrier testing available
- Storage and transport
- Store in fridge, ( don't freeze)to laboratory within 7 days/1st class post
- Turnaround time
- 1 week