Whole blood identified as a reliable diagnostic tool for Smith-Lemli-Opitz syndrome

Whole blood can serve as a reliable alternative to plasma for diagnosing Smith-Lemli-Opitz syndrome (SLOS), according to a study.

Researchers investigated the correlation and transference ratio of 7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) between whole blood and plasma samples.

Using gas chromatography-mass spectrometry, the study analyzed samples from 28 healthy individuals and 1 patient with SLOS. The results demonstrated a significant correlation between 7-DHC and CHOL levels in whole blood and plasma, with correlation coefficients of 0.565 and 0.692, respectively.

The researchers concluded, “Whole blood can be considered an optimal alternative diagnostic tool for predicting SLOS in carriers, surpassing the reliance on plasma alone.”

Reference
Huang Z, Luo Y, Zhang C, et al. Comparison of 7-dehydrocholesterol and cholesterol in whole blood vs. plasma samples for diagnosis of SLOS. J Steroid Biochem Mol Biol. 2025;106682. doi: 10.1016/j.jsbmb.2025.106682. Epub ahead of print. PMID: 39922323.