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Abstract The search for a screening marker that could be used for the detection of many LSDs is of great importance. Chitotriosidase enzyme was reported for the first time to be markedly elevated in patients with Gaucher disease, one of the most common LSDs. This was followed by the detection of its elevation in the plasma of many other LSDs. In the current study we were aiming to evaluate the extent of usefulness of chitotriosidase enzyme as a screening tool for LSDs and also to evaluate the performance of 2 methods, using 2 different sample types: plasma and blood spots.Plasma chitotriosidase assay was superior in all aspects of comparison, but the blood spot assay was satisfactory in all these parameters with its clear superiority as a sample type. We think that both methods could be applicable in the same laboratory settings, preferably with determining the cut off limit for each inside the lab. |