Quality control and quantification in IG/TR next-generation sequencing marker identification: protocols and bioinformatic functionalities by EuroClonality-NGS

Leukemia. 2019 Sep;33(9):2254-2265. doi: 10.1038/s41375-019-0499-4. Epub 2019 Jun 21.


Assessment of clonality, marker identification and measurement of minimal residual disease (MRD) of immunoglobulin (IG) and T cell receptor (TR) gene rearrangements in lymphoid neoplasms using next-generation sequencing (NGS) is currently under intensive development for use in clinical diagnostics. So far, however, there is a lack of suitable quality control (QC) options with regard to standardisation and quality metrics to ensure robust clinical application of such approaches. The EuroClonality-NGS Working Group has therefore established two types of QCs to accompany the NGS-based IG/TR assays. First, a central polytarget QC (cPT-QC) is used to monitor the primer performance of each of the EuroClonality multiplex NGS assays; second, a standardised human cell line-based DNA control is spiked into each patient DNA sample to work as a central in-tube QC and calibrator for MRD quantification (cIT-QC). Having integrated those two reference standards in the ARResT/Interrogate bioinformatic platform, EuroClonality-NGS provides a complete protocol for standardised IG/TR gene rearrangement analysis by NGS with high reproducibility, accuracy and precision for valid marker identification and quantification in diagnostics of lymphoid malignancies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computational Biology / methods
  • Gene Rearrangement / genetics
  • Genetic Markers / genetics*
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Immunoglobulins / genetics*
  • Neoplasm, Residual / genetics
  • Quality Control
  • Receptors, Antigen, T-Cell / genetics*
  • Reproducibility of Results


  • Genetic Markers
  • Immunoglobulins
  • Receptors, Antigen, T-Cell