Sensitivity and specificity for different biomarkers with regard to diagnosis of GD.

So far Chitotriosidase is the standard biomarker for GD, however due to mutations in the Chitotriosidase gene, Chitotriosidase can be false negative, thus makes the use of the far more unreliable marker CCL18 necessary. For assessment of chitotriosidase sensitivity and specificity 233 samples were analyses resulting in a sensitivity of 91.7% and a specificity of 86.1%. Overall 207 samples were analysed to evaluate the sensitivity and specificity of CCL18, which displayed a sensitivity of 76.2% and a specificity of 79.4% each. We propose Glucosylsphingosine as a more specific and sensitive biomarker for GD as it yielded both a sensitivity and specificity of 100% in 521 analysed samples.