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
- Inherited Metabolic Disease
- Sample type and volume required
EDTA (purple top) Mutation analysis and carrier testing available
- Storage and transport
Store in fridge, ( don’t freeze). Transport to laboratory within 24hrs
- Turnaround time
1 week
- Contacts
Inherited Metabolic Diseases Unit at Blackfriars Hub
Phone: 020 4591 0070
IMD Duty Biochemist: 07592 502653
Email: ClinicalScientistIMD@synnovis.co.uk
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ