Comparison of 7-dehydrocholesterol and cholesterol in whole blood vs. plasma samples for diagnosis of SLOS

Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive disorder characterized by specific clinical features. This study investigated the correlation and transference ratio of 7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) as screening/diagnostic markers for SLOS in whole blood and plasma samples.

The gas chromatography-mass spectrometry (GC-MS) method was employed to analyze whole blood and plasma samples collected from 28 healthy volunteers and one patient with SLOS. Before analysis, an optimized and validated assay for 7-DHC and CHOL in whole blood was developed. Pearson's correlation analysis was then performed to assess the correlation between the levels of 7-DHC and CHOL in whole blood and plasma.

The correlation analysis revealed a significant correlation between the levels of 7-DHC and CHOL in whole blood and plasma, with correlation coefficients (r) greater than 0.5 (0.565 for 7-DHC and 0.692 for CHOL). These findings suggest the feasibility of transference between whole blood and plasma samples.

Whole blood can be considered an optimal alternative diagnostic tool for predicting SLOS in carriers, surpassing the reliance on plasma alone. This study introduces a new diagnostic matrix for determining 7-DHC and CHOL, expanding the scope of SLOS diagnosis and research.