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Protein C/S ratio, an accurate and simple tool to identify carriers of a protein C gene mutation

Summary.  Hereditary protein C deficiency is demonstrated by lowered protein C plasma levels in a patient and at least one first‐degree relative. This approach is insufficient in some cases owing to overlapping protein C levels in carriers and non‐carriers of a protein C gene mutation. The protein C/S ratio is a simple and more accurate tool to detect carriers. In four families, 62% of 29 carriers, compared with none of 39 non‐carriers, were protein C deficient. Sensitivity and specificity of the protein C/S ratio were 90% and 92% respectively. The protein C/S ratio seems to be more accurate than the measurement of protein C levels alone to identify carriers of a protein C gene mutation.