Watson-Schwartz test – Knowledge and References

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Sideroblastic Anemia and Porphyrias

Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019

Advances in the understanding of porphyrias have also occurred. In a family with variegate porphyria, a nonsense mutation in the protoporphyrinogen oxidase gene was identified as the underlying mutation. Other studies further defined the molecular defect of a genetic mutation leading to partial deficiency of protoporphyrinogen oxidase in homozygous variegate porphyria (21). For detection of urinary porphyobilinogen in acute intermittent porphyria, a commercial semi-quantitative bit (Trace) is described as more sensitive and specific than the standard Watson–Schwartz test (22).

Acute intermittent porphyria: general aspects with focus on pain

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Journal Information

Published in Current Medical Research and Opinion, 2018

John Lidemberto Cardenas, Carlos Guerrero

The available detection methods are the Watson–Schwartz test, a rapid screening method for urinary PBG, or the column method of Mauzerall and Granick, a quantitative and more specific test. However, these tests have been replaced by easier and more specific methods, such as the Trace PBG kit that uses an anion exchange resin. The detection tests for PBGD mutations have a sensitivity and specificity of 95% and 100%, respectively, and are increasingly being used. The newer tests are not recommended for the general population given the large number of mutations, unless a mutation has been identified in a family or in a population with a high rate of genetic carriers3,10,18.