ADA 2 in plasma/serum (adenosine deaminase)
- Description
- 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 ISO15189:2022.
- 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.
- Related condition
- Reference range
6.9-59.7 IU/L
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Inherited Metabolic Disease
- Sample type and volume required
Sample type and Volume required:
EDTA (plasma) – 2ml
SST (serum) – 2ml
- 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
- Turnaround time
2 weeks
- 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