How is ADA deficiency diagnosed in hypogammaglobulinemia?

Updated: Dec 26, 2018
  • Author: Elizabeth A Secord, MD; Chief Editor: Michael A Kaliner, MD  more...
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ADA levels should be measured in patients with SCID. The diagnosis of ADA deficiency is made by finding ADA levels less than 1% of the reference range. Cost-benefit analysis dictates that enzyme assays should be checked before genetic analysis. Also in the differential are mutations in purine nucleoside phosphorylase; this should be evaluated along with ADA levels. Tests can be done prenatally on amniotic fluid.

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