ADA 2 in plasma/serum (adenosine deaminase)

Overview
Ordering info

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).

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.

Reference range:

6.9-59.7 IU/L

Department:

Reference Services

Location:

Blackfriars Hub

Sample type and Volume required:

Sample type and Volume required:
EDTA (whole blood) - 3ml
EDTA (plasma) - 2ml
SST (serum) - 2ml

Turnaround time:

2 weeks

Special sample instructions:

Criteria for acceptance / rejections of sample: Haemolysed samples will be rejected