Study supports whole blood as a diagnostic tool for Smith-Lemli-Opitz syndrome

Whole blood can serve as a reliable alternative to plasma for diagnosing Smith-Lemli-Opitz syndrome (SLOS) by measuring 7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) levels, according to a study.

Using gas chromatography-mass spectrometry (GC-MS), the study analyzed samples from 28 healthy individuals and 1 patient with SLOS. There was a significant correlation between 7-DHC and CHOL levels in both sample types, with correlation coefficients of 0.565 for 7-DHC and 0.692 for CHOL.

These findings indicate that whole blood could be an effective diagnostic matrix, offering a practical alternative to plasma testing.

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;248:106682. doi: 10.1016/j.jsbmb.2025.106682. Epub 2025 Feb 6. PMID: 39922323.