Currently, screening for DADA2 is initiated upon a physician's judgement. Criteria to trigger screening have been proposed however, including at least one sign of inflammation and vasculitis. The specific diagnosis of DADA2 requires either confirmation of known pathogenic mutations in ADA2 or low ADA2 enzymatic activity in patient blood. Genetic testing for DADA2 has been performed as either a single-gene test through Sanger sequencing, or a multi-gene test through panel testing, whole exome sequencing, or whole genome sequencing. These techniques vary in cost, intensity, and detection, and mutations have been missed due to the technique initially used. As such, more extensive analysis is sometimes necessary if suspicion of DADA2 remains. Enzymatic activity analysis can confirm whether or not the ADA2 gene should be investigated further in these situations, and has been recommended by some as the premier diagnostic technique.
Adenosine deaminase 2 deficiency
Adenosine deaminase deficiency
Adenine phosphoribosyltransferase deficiency
Adenosine monophosphate deaminase deficiency type 1
Guanidinoacetate methyltransferase deficiency
Galactose-1-phosphate uridylyltransferase deficiency
Aminoacylase 1 deficiency
Methylenetetrahydrofolate reductase deficiency