Validating quantitative PCR assays for cfDNA detection without DNA extraction in exercising SLE patients

Sci Rep. 2021 Jun 30;11(1):13581. doi: 10.1038/s41598-021-92826-4.

Abstract

Circulating cell-free DNA (cfDNA) has been investigated as a screening tool for many diseases. To avoid expensive and time-consuming DNA isolation, direct quantification PCR assays can be established. However, rigorous validation is required to provide reliable data in the clinical and non-clinical context. Considering the International Organization for Standardization, as well as bioanalytical method validation guidelines, we provide a comprehensive procedure to validate assays for cfDNA quantification from blood plasma without DNA isolation. A 90 and 222 bp assay was validated to study the kinetics of cfDNA after exercise in patients with systemic lupus erythematosus (SLE). The assays showed ultra-low limit of quantification (LOQ) with 0.47 and 0.69 ng/ml, repeatability ≤ 11.6% (95% CI 8.1-20.3), and intermediate precision ≤ 12.1% (95% CI 9.2-17.7). Incurred sample reanalysis confirmed the precision of the procedure. The additional consideration of pre-analytical factors shows that centrifugation speed and temperature do not change cfDNA concentrations. In SLE patients cfDNA increases ~ twofold after a walking exercise, normalizing after 60 min of rest. The established assays allow reliable and cost-efficient quantification of cfDNA in minute amounts of plasma in the clinical setting. Additionally, the assay can be used as a tool to determine the impact of pre-analytical factors and validate cfDNA quantity and quality of isolated samples.

Publication types

  • Clinical Trial
  • Validation Study

MeSH terms

  • Adult
  • Cell-Free Nucleic Acids / blood*
  • Cell-Free Nucleic Acids / genetics*
  • Female
  • Humans
  • Lupus Erythematosus, Systemic / blood*
  • Lupus Erythematosus, Systemic / genetics*
  • Male
  • Middle Aged
  • Real-Time Polymerase Chain Reaction*

Substances

  • Cell-Free Nucleic Acids